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dna

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  1. recessive allele
    an allele that produces its characteristic phenotype only when its paired allele is identical
    On the other hand, a recessive allele will be expressed only if there are two identical copies of that allele, or for a male, if one copy is present on the X chromosome.
  2. coding DNA
    sequence of a gene's DNA that transcribes into protein structures
    Another class of non-coding DNA is the "pseudogene", so named because it is believed to be a remnant of a real gene that has suffered mutations and is no longer functional.
  3. organelle
    a specialized part of a cell; analogous to an organ
    Organelle DNA Not all genetic information is found in nuclear DNA.
  4. linked genes
    any pair of genes that tend to be transmitted together
    There are at least a dozen Y-linked genes, in addition to those that code for masculine physical traits.
  5. dominant allele
    an allele that produces the same phenotype whether its paired allele is identical or different
    The Nature of Alleles A dominant allele is an allele that is almost always expressed, even if only one copy is present.
  6. mitochondrion
    part of a cell involved in energy production
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  7. eukaryote
    an organism of one or more cells with membrane-bound nuclei
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  8. mRNA
    the template for protein synthesis
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  9. allele
    any of the forms of a gene that can occupy the same locus
    Methylation also plays an important role in genomic imprinting, which occurs when both maternal and paternal alleles are present but only one allele is expressed while the other remains inactive.
  10. codon
    a specific sequence of three adjacent nucleotides on a strand of DNA or RNA that specifies the genetic code information for synthesizing a particular amino acid
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  11. globin
    a colorless protein obtained by removing heme from hemoglobin; the oxygen carrying compound in red blood cells
    The Globin Genes: An Example of Transcriptional Regulation An example of transcriptional control occurs in the family of genes responsible for the production of globin.
  12. allelic
    of or relating to alleles
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  13. RNA polymerase
    the enzyme that copies DNA into RNA
    Transcription Transcription, the synthesis of an RNA copy from a sequence of DNA, is carried out by an enzyme called RNA polymerase.
  14. phenotype
    observable characteristics produced by genes and environment
    When two individuals display different phenotypes of the same trait, they are said to have two different alleles for the same gene.
  15. ribosome
    a particle in a cell that helps synthesize proteins
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  16. phenotypic
    of or relating to or constituting a phenotype
    These expressed, or phenotypic, traits are attributable to genotypic variation in a person's DNA sequence.
  17. macromolecule
    any very large complex molecule
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  18. Sachs disease
    a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  19. red-green color blindness
    confusion of red and green
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  20. genotypic
    of or relating to or constituting a genotype
    These expressed, or phenotypic, traits are attributable to genotypic variation in a person's DNA sequence.
  21. blood type
    human blood cells that have the same antigens
    Then there are the not so obvious genetic variations, such as blood type.
  22. polymerase
    an enzyme that catalyzes the formation of new DNA and RNA from an existing strand of DNA or RNA
    Transcription Transcription, the synthesis of an RNA copy from a sequence of DNA, is carried out by an enzyme called RNA polymerase.
  23. meiosis
    cell division that produces reproductive cells
    Meiosis is the mode of cell replication for the formation of sperm and egg cells in plants, animals, and many other multicellular life forms.
  24. deoxyribose
    a sugar that is a constituent of nucleic acids
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  25. eukaryotic
    having cells with `good' or membrane-bound nuclei
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  26. X-linked
    relating to genes or characteristics or conditions carried on the X chromosome
    Both men and women can have X-linked traits because both inherit X chromosomes.
  27. gamete
    a mature sexual reproductive cell
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  28. law of independent assortment
    each member of a pair of homologous chromosomes separates independently of the members of other pairs so the results are random
    Law of Independent Assortment: In the gametes, alleles of one gene separate independently of those of another gene, and thus all possible combinations of alleles are equally probable.
  29. nucleotide
    a phosphoric ester of a nucleoside
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  30. methionine
    a crystalline amino acid containing sulfur
    Translation The beginning of translation, the process in which the genetic code carried by mRNA directs the synthesis of proteins from amino acids, differs slightly for prokaryotes and eukaryotes, although both processes always initiate at a codon for methionine.
  31. amino acid
    organic compounds containing an amino group and acid group
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  32. chromosome
    a threadlike strand of DNA that carries genes
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  33. mutant gene
    a gene that has changed so that the normal transmission and expression of a trait is affected
    The individual in whom such a nonpenetrant mutant gene exists will be phenotypically normal but still capable of passing the deleterious gene on to offspring, who may exhibit the full-blown disease.
  34. intron
    sequence of a eukaryotic gene's DNA that is not translated into a protein
    One might then ask what the purpose of an intron is if it is spliced out after it is transcribed?
  35. mosaicism
    the condition in which an organism has two or more cell populations that differ in genetic makeup
    In this case, somatic mosaicism may be the culprit.
  36. type AB
    the blood group whose red cells carry both the A and B antigens
    So, the possible allele combinations result in a particular blood type in this way: OO = blood type O AO = blood type A BO = blood type B AB = blood type AB AA = blood type A BB = blood type B You can see that a person with blood type B may have a B and an O allele, or they may have two B alleles.
  37. daughter cell
    a cell formed by the division or budding of another cell
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  38. RNA
    a nucleic acid that helps synthesize proteins and transmit genetic data
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  39. thymine
    a base found in DNA and derived from pyrimidine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  40. somatic cell
    a cell that does not participate in reproduction
    Mutations that occur in somatic cells-any cell in the body except gametes and their precursors-will not be passed on to the next generation.
  41. inactivate
    make inactive
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  42. Arabidopsis thaliana
    a small invasive self-pollinating weed with small white flowers; much studied by plant geneticists; the first higher plant whose complete genome sequence was described
    Gene Switching: Turning Genes On and Off The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  43. sex chromosome
    a chromosome that determines the sex of an individual
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  44. skin cell
    any of the cells making up the skin
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  45. cytosine
    a base found in DNA and RNA and derived from pyrimidine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  46. diploid
    an organism or cell having the normal amount of DNA per cell
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  47. X chromosome
    the sex chromosome that is present in both sexes: singly in males and doubly in females
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  48. mutation
    a change or alteration in form or qualities
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  49. ribose
    a pentose sugar important as a component of ribonucleic acid
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA.
  50. repressor
    an agent that represses
    Other regulatory sequences include activators, repressors, and enhancers.
  51. gene
    part of DNA controlling physical characteristics and growth
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  52. base pair
    one of the pairs of chemical bases joined by hydrogen bonds that connect the complementary strands of a DNA molecule or of an RNA molecule that has two strands; the base pairs are adenine with thymine and guanine with cytosine in DNA and adenine with uracil and guanine with cytosine in RNA
    Thus, A-T and G-C base pairs are said to be complementary.
  53. guanine
    a purine base found in DNA and RNA; pairs with cytosine
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  54. centromere
    a specialized condensed region of each chromosome that appears during mitosis where the chromatids are held together to form an X shape
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  55. recessive
    of or pertaining to a recession
    These factors each exhibit a characteristic dominant, co-dominant, or recessive expression, and those that are dominant will mask the expression of those that are recessive.
  56. gene expression
    conversion of the information encoded in a gene first into messenger RNA and then to a protein
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  57. serine
    a sweetish crystalline amino acid involved in the synthesis by the body of cysteine
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG.
  58. methyl group
    the univalent radical CH3- derived from methane
    One chemical modification of DNA, called methylation, involves the addition of a methyl group (-CH3).
  59. type O
    the blood group whose red cells carry neither the A nor B antigens
    Because blood type O is recessive, it is not apparent if the person inherits an A or B allele along with it.
  60. red blood cell
    a mature blood cell that contains hemoglobin to carry oxygen to the bodily tissues; a biconcave disc that has no nucleus
    Hemoglobin transports oxygen to our tissues via red blood cells.
  61. homozygous
    having identical alleles at corresponding chromosomal loci
    If both alleles are the same, the gene is said to be homozygous.
  62. DNA
    material that carries genetic information in a cell
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  63. telomere
    either (free) end of a eukaryotic chromosome
    These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  64. Marfan's syndrome
    an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
    An example is Marfan's syndrome, where there is a defect in the gene coding for a connective tissue protein.
  65. chemical property
    a property used to characterize materials in reactions that change their identity
    As stated previously, the chemical properties of the four DNA bases differ slightly, providing each base with unique opportunities to chemically react with other molecules.
  66. dominant gene
    gene that produces the same phenotype in the organism whether or not its allele identical
    Just how the dominant allele overshadows the other allele depends on the gene, but in some cases the dominant gene produces a gene product that the other allele does not.
  67. adenine
    purine base found in DNA and RNA
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  68. inactivation
    the process of rendering inactive
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  69. chloroplast
    organelle in which photosynthesis takes place
    Plants also have a second organelle, the chloroplast, which also has its own DNA.
  70. achondroplasia
    an inherited skeletal disorder beginning before birth
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  71. amino
    pertaining to or containing any of a group of organic compounds of nitrogen derived from ammonia
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  72. type B
    the blood group whose red cells carry the B antigen
    So, the possible allele combinations result in a particular blood type in this way: OO = blood type O AO = blood type A BO = blood type B AB = blood type AB AA = blood type A BB = blood type B You can see that a person with blood type B may have a B and an O allele, or they may have two B alleles.
  73. egg cell
    the female reproductive cell; the female gamete
    Upon fertilization, an egg cell begins to multiply to produce a ball of cells that are all the same.
  74. encode
    represent ordinary language in a secret form
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  75. Gregor Mendel
    Augustinian monk and botanist whose experiments in breeding garden peas led to his eventual recognition as founder of the science of genetics (1822-1884)
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  76. Arabidopsis
    a genus of the mustard family having white or yellow or purplish flowers; closely related to genus Arabis
    Gene Switching: Turning Genes On and Off The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  77. junk DNA
    stretches of DNA that do not code for genes
    Structural Genes, Junk DNA, and Regulatory Sequences Over 98 percent of the genome is of unknown function.
  78. haploid
    (genetics) an organism or cell having only one complete set of chromosomes
    Hence, gametes are said to be haploid-having only a single set of homologous chromosomes.
  79. uracil
    a base containing nitrogen that is found in RNA (but not in DNA) and derived from pyrimidine; pairs with adenine
    For example, uracil takes the place of the thymine nucleotide found in DNA, and RNA is, for the most part, a single-stranded molecule.
  80. law of segregation
    members of a pair of homologous chromosomes separate during the formation of gametes and are distributed to different gametes so that every gamete receives only one member of the pair
    Mendel's Principles of Genetic Inheritance Law of Segregation: Each of the two inherited factors (alleles) possessed by the parent will segregate and pass into separate gametes (eggs or sperm) during meiosis, which will each carry only one of the factors.
  81. adenosine triphosphate
    a nucleotide derived from adenosine that occurs in muscle tissue; the major source of energy for cellular reactions
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  82. recombination
    the rearrangement of genes (by crossing over) in offspring
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  83. skeletal system
    the hard structure (bones and cartilages) that provides a frame for the body of an animal
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  84. muscle cell
    an elongated contractile cell that forms the muscles of the body
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  85. replication
    the act of making copies
    For example, certain sequences indicate the beginning and end of genes, sites for initiating replication and recombination, or provide landing sites for proteins that turn genes on and off.
  86. genetic code
    the ordering of nucleotides in DNA molecules that carries the genetic information in living cells
    The genetic code carried by DNA is what specifies the order and number of amino acids and, therefore, the shape and function of the protein.
  87. heterozygous
    having dissimilar alleles at corresponding chromosomal loci
    If the alleles are different, they are said to be heterozygous.
  88. blood cell
    either of two types of cells (erythrocytes and leukocytes) and sometimes including platelets
    Hemoglobin transports oxygen to our tissues via red blood cells.
  89. protein
    an organic compound essential to living cells
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  90. exon
    sequence of a gene's DNA that transcribes into protein structures
    The Core Gene Sequence: Introns and Exons Genes make up about 1 percent of the total DNA in our genome.
  91. single-stranded
    having a single strand
    For example, uracil takes the place of the thymine nucleotide found in DNA, and RNA is, for the most part, a single-stranded molecule.
  92. phenylketonuria
    a genetic disorder of metabolism
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  93. phenylalanine
    an essential amino acid found in proteins and needed for growth of children and for protein metabolism in children and adults; abundant in milk and eggs; it is normally converted to tyrosine in the human body
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  94. garden pea
    plant producing peas usually eaten fresh rather than dried
    Studying garden peas might seem trivial to those of us who live in a modern world of cloned sheep and gene transfer, but Mendel's simple approach led to fundamental insights into genetic inheritance, known today as Mendel's Laws.
  95. yolk sac
    membranous structure enclosing the yolk of eggs in birds, reptiles, marsupials, and some fishes; circulates nutrients to the developing embryo
    During the first few weeks of life, embryonic globin is expressed in the yolk sac of the egg.
  96. PKU
    a genetic disorder of metabolism
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  97. genome
    the full DNA sequence of an organism
    WHAT IS A GENOME?
  98. coding
    act of writing in code or cipher
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  99. melanin
    insoluble pigments that account for the color of e.g. skin and scales and feathers
    If a mutation affecting melanin production occurred in one of the cells in the cell lineage of one eye but not the other, then the eyes would have different genetic potential for melanin synthesis.
  100. messenger RNA
    the template for protein synthesis
    For example, all genes that code for proteins are first made into an RNA strand in the nucleus called a messenger RNA (mRNA).
  101. purine
    a colorless crystalline organic base containing nitrogen
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  102. multicellular
    consisting of many basic structural and functional units
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  103. sequence
    a following of one thing after another in time
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  104. Tay-Sachs disease
    a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  105. ribonucleic acid
    a nucleic acid that helps synthesize proteins and transmit genetic data
    Just like DNA, ribonucleic acid (RNA) is a chain, or polymer, of nucleotides with the same 5' to 3' direction of its strands.
  106. night blindness
    inability to see clearly in dim light
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  107. transcription
    something written, copied from one medium to another
    Transferring the code from DNA to RNA is a fairly straightforward process called transcription.
  108. protein molecule
    any large molecule containing chains of amino acids linked by peptide bonds
    They perform such functions as transporting nutrients into the cell; synthesizing new DNA, RNA, and protein molecules; and transmitting chemical signals from outside to inside the cell, as well as throughout the cell-both critical to the process of making proteins.
  109. molecular genetics
    the branch of genetics concerned with the structure and activity of genetic material at the molecular level
    Molecular Genetics: The Study of Heredity, Genes, and DNA As we have just learned, DNA provides a blueprint that directs all cellular activities and specifies the developmental plan of multicellular organisms.
  110. polymorphic
    having or occurring in several distinct forms
    This means that the gene's sequence is slightly different in the two individuals, and the gene is said to be polymorphic, "poly" meaning many and "morph" meaning shape or form.
  111. blood group
    human blood cells that have the same antigens
    Control of the human blood group system provides a good example of co-dominant alleles.
  112. heme
    a complex red organic pigment containing iron and other atoms to which oxygen binds
    Globin is the protein that complexes with the iron-containing heme molecule to make hemoglobin.
  113. sperm cell
    the male reproductive cell; the male gamete
    In the first stages of development, a sperm cell and egg cell fuse.
  114. molecule
    the simplest structural unit of an element or compound
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  115. mitosis
    the process by which a cell divides into two new cells
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  116. activator
    any agency bringing about activation
    Other regulatory sequences include activators, repressors, and enhancers.
  117. enhancer
    anything that serves by contrast to call attention to another thing's good qualities
    Other regulatory sequences include activators, repressors, and enhancers.
  118. hydroxyl group
    the monovalent group -OH in such compounds as bases and some acids and alcohols
    The so-called 5' end terminates in a 5' phosphate group (-PO4); the 3' end terminates in a 3' hydroxyl group (-OH).
  119. translational
    of or relating to uniform movement without rotation
    Translational regulation occurs through the binding of specific molecules, called repressor proteins, to a sequence found on an RNA molecule.
  120. adenosine
    a nucleoside that is a structural component of nucleic acids
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  121. cell
    the basic structural and functional unit of all organisms
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  122. genetic
    relating to the study of heredity and variation in organisms
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  123. relatedness
    a particular manner of connectedness
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  124. hemoglobin
    a red protein in blood that transports oxygen
    Globin is the protein that complexes with the iron-containing heme molecule to make hemoglobin.
  125. somatic
    characteristic of the body as opposed to the mind or spirit
    Mutations that occur in somatic cells-any cell in the body except gametes and their precursors-will not be passed on to the next generation.
  126. aerobic
    depending on free oxygen or air
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  127. deoxyribonucleic acid
    (biochemistry) a long linear polymer found in the nucleus of a cell and formed from nucleotides and shaped like a double helix; associated with the transmission of genetic information
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  128. cardiovascular system
    the organs and tissues involved in circulating blood and lymph through the body
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  129. catalyze
    spark or trigger a rapid change
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  130. synthesize
    combine and form a complex whole
    This is important because DNA strands are always synthesized in the 5' to 3' direction.
  131. strand
    a group of fibers twisted together to form a thread or rope
    The nucleus contains long strands of DNA that encode this genetic information.
  132. Tay-Sachs
    a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  133. life form
    the characteristic bodily form of a mature organism
    The manner in which a cell replicates differs with the various classes of life forms, as well as with the end purpose of the cell replication.
  134. enzyme
    a complex protein produced by cells that acts as a catalyst
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  135. molecular biology
    the branch of biology that studies the structure and activity of macromolecules essential to life (and especially with their genetic role)
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  136. brain cell
    a nerve cell in the brain
    Some will become blood cells or kidney cells, whereas others may become nerve or brain cells.
  137. Francis Crick
    English biochemist who (with Watson in 1953) helped discover the helical structure of DNA (1916-2004)
    Francis Crick Although DNA is the carrier of genetic information in a cell, proteins do the bulk of the work.
  138. genetic mutation
    any event that changes genetic structure
    Genetic mutations occur randomly, and the effect of a small number of mutations on a single gene may be minimal.
  139. dwarfism
    a genetic abnormality resulting in short stature
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  140. cell division
    the process in reproduction and growth by which a cell divides to form daughter cells
    Although they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division.
  141. Y chromosome
    the sex chromosome that is carried by men
    Because only men inherit Y chromosomes, they are the only ones to inherit Y-linked traits.
  142. splice
    join the ends of
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  143. symbiotic
    of organisms living together, especially to mutual advantage
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  144. trait
    a distinguishing feature of your personal nature
    Another way to think of genomic imprinting is as "parent of origin differences" in the expression of inherited traits.
  145. nucleic acid
    (biochemistry) any of various macromolecules composed of nucleotide chains that are vital constituents of all living cells
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  146. developmentally
    with respect to development
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  147. sickle cell
    an abnormal red blood cell that has a crescent shape and an abnormal form of hemoglobin
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  148. color blindness
    genetic inability to distinguish differences in hue
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  149. annotate
    add explanatory notes to or supply with critical comments
    However, we still have to make guesses at the actual number of genes, because not all of the human genome sequence is annotated and not all of the known sequence has been assigned a particular position in the genome.
  150. methylated
    having received a methyl group
    The methylation status of DNA often correlates with its functional activity, where inactive genes tend to be more heavily methylated.
  151. bone marrow
    the fatty network of connective tissue that fills the cavities of bones
    By birth, red blood cells are being produced, and globin is expressed in the bone marrow.
  152. mutant
    an animal that has undergone mutation
    The individual in whom such a nonpenetrant mutant gene exists will be phenotypically normal but still capable of passing the deleterious gene on to offspring, who may exhibit the full-blown disease.
  153. double helix
    the dual-stranded molecular structure of nucleic acids such as DNA
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  154. computer program
    (computer science) a sequence of instructions that a computer can interpret and execute
    Gene Prediction Using Computers When the complete mRNA sequence for a gene is known, computer programs are used to align the mRNA sequence with the appropriate region of the genomic DNA sequence.
  155. imprinting
    a learning process in early life whereby species specific patterns of behavior are established
    Methylation also plays an important role in genomic imprinting, which occurs when both maternal and paternal alleles are present but only one allele is expressed while the other remains inactive.
  156. recombine
    to combine or put together again
    Mitochondrial DNA also does not recombine; there is no shuffling of genes from one generation to the other, as there is with nuclear genes.
  157. cytoplasm
    the substance inside a cell, not including the nucleus
    The mRNA carries the information encoded in DNA out of the nucleus to the protein assembly machinery, called the ribosome, in the cytoplasm.
  158. pathogen
    any disease-producing agent
    Mutations also provide a species with the opportunity to adapt to new environments, as well as to protect a species from new pathogens.
  159. inherit
    receive from a predecessor
    Unlike nuclear DNA (the DNA found within the nucleus of a cell), half of which comes from our mother and half from our father, mitochondrial DNA is only inherited from our mother.
  160. type A
    the blood group whose red cells carry the A antigen
    So, the possible allele combinations result in a particular blood type in this way: OO = blood type O AO = blood type A BO = blood type B AB = blood type AB AA = blood type A BB = blood type B You can see that a person with blood type B may have a B and an O allele, or they may have two B alleles.
  161. segregate
    divide from the main body or mass and collect
    Mendel's Principles of Genetic Inheritance Law of Segregation: Each of the two inherited factors (alleles) possessed by the parent will segregate and pass into separate gametes (eggs or sperm) during meiosis, which will each carry only one of the factors.
  162. albinism
    the absence of pigmentation in the eyes, skin, and hair
    The gene for albinism in humans is an epistatic gene.
  163. replicate
    reproduce or make an exact copy of
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  164. sperm
    the male reproductive cell; the male gamete
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  165. reference point
    an indicator that orients you generally
    Mutations can also cause a frame shift, which occurs when the variation bumps the reference point for reading the genetic code down a base or two and results in loss of part, or sometimes all, of that gene product.
  166. anaerobic
    not using or dependent on oxygen
    Other energy conversion processes in the cell take place anaerobically, or without oxygen.
  167. amoeba
    a single-celled organism that lives in water or soil
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  168. synthesis
    the combination of ideas into a complex whole
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  169. initiate
    set in motion, start an event or prepare the way for
    This molecule has the job of recognizing the DNA sequence where transcription is initiated, called the promoter site.
  170. fertilized egg
    an animal organism in the early stages of growth and differentiation that in higher forms merge into fetal stages but in lower forms terminate in commencement of larval life
    In multicellular organisms, every cell in the adult is ultimately derived from the single-cell fertilized egg.
  171. duplex
    a house with two units sharing a common wall
    Recombination involves pairing between complementary strands of two parental duplex DNAs (top and middle panel).
  172. hemophilia
    congenital tendency to uncontrolled bleeding
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  173. complementary
    serving to fill out, enhance, or supply what is lacking
    Thus, A-T and G-C base pairs are said to be complementary.
  174. template
    a model or standard for making comparisons
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  175. fertilization
    making productive by adding nutrients
    However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria.
  176. ultraviolet radiation
    radiation lying in the ultraviolet range
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  177. splicing
    a junction where two things have been joined together
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  178. hydroxyl
    the monovalent group -OH in such compounds as bases and some acids and alcohols
    The so-called 5' end terminates in a 5' phosphate group (-PO4); the 3' end terminates in a 3' hydroxyl group (-OH).
  179. blood transfusion
    the introduction of blood or blood plasma into a vein or artery
    Treatments include blood transfusions, iron chelators, and bone marrow transplants.
  180. organism
    a living thing that can act or function independently
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  181. deletion
    any process whereby sounds or words are left out of spoken words or phrases
    Mutations in the new DNA strand can manifest as base substitutions, such as when a single base gets replaced with another; deletions, where one or more bases are left out; or insertions, where one or more bases are added.
  182. promoter
    someone who is an active supporter and advocate
    This molecule has the job of recognizing the DNA sequence where transcription is initiated, called the promoter site.
  183. homologous
    similar in position, structure, function, or characteristics
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  184. Mendel
    Augustinian monk and botanist whose experiments in breeding garden peas led to his eventual recognition as founder of the science of genetics (1822-1884)
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  185. mutate
    undergo a change or alteration in form or qualities
    Thus, alternate transcripts from a single gene could reduce the chances that a mutated gene is transmitted.
  186. sophisticate
    a person who is cultured and has worldly experience
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  187. duplication
    the act of making a copy of something
    Although they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division.
  188. dominant
    most frequent or common
    These factors each exhibit a characteristic dominant, co-dominant, or recessive expression, and those that are dominant will mask the expression of those that are recessive.
  189. differentiation
    a discrimination between things as distinct
    Although there is no known cure for the thalassemias, there are medical treatments that have been developed based on our current understanding of both gene regulation and cell differentiation.
  190. polymer
    a naturally occurring or synthetic compound
    Just like DNA, ribonucleic acid (RNA) is a chain, or polymer, of nucleotides with the same 5' to 3' direction of its strands.
  191. specificity
    the quality of being particular rather than general
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  192. transcript
    a written record of dictated or recorded speech
    Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  193. correlate
    bear a reciprocal or mutual relation
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  194. upstream
    toward the source or against the current
    In general, there are two "promoter" sequences upstream from the beginning of every gene.
  195. initiator
    a person who starts a course of action
    This polymerase requires a sequence resembling TATAA, commonly referred to as the TATA box, which is found 25-30 nucleotides upstream of the beginning of the gene, referred to as the initiator sequence.
  196. specialize
    become more focused on an area of activity or field of study
    It first requires that the mRNA leave the nucleus and associate with a large complex of specialized RNAs and proteins that, collectively, are called the ribosome.
  197. stem cell
    an undifferentiated cell whose daughter cells may differentiate into other cell types (such as blood cells)
    Yet, the globin found in the yolk is not produced from the same gene as is the globin found in the liver or bone marrow stem cells.
  198. beta
    the second letter of the Greek alphabet
    To further complicate matters, globin is made from two different protein chains: an alpha-like chain coded for on chromosome 16; and a beta-like chain coded for on chromosome 11.
  199. methyl
    the univalent radical CH3- derived from methane
    One chemical modification of DNA, called methylation, involves the addition of a methyl group (-CH3).
  200. discrete
    constituting a separate entity or part
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  201. embryonic
    of an organism prior to birth or hatching
    During the first few weeks of life, embryonic globin is expressed in the yolk sac of the egg.
  202. cellular
    relating to cells
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  203. decode
    convert something hidden or secretive into ordinary language
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  204. code
    a set of rules or principles or laws
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  205. mutually beneficial
    mutually dependent
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  206. helix
    a curve that lies on the surface of a cylinder or cone
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  207. morph
    cause to change shape in a computer animation
    This means that the gene's sequence is slightly different in the two individuals, and the gene is said to be polymorphic, "poly" meaning many and "morph" meaning shape or form.
  208. fetal
    of or relating to a fetus
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  209. physical structure
    the entire structure of an organism
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  210. workhorse
    a horse used for plowing and hauling and other heavy labor
    Although it is true that proteins are the major components of structural elements in a cell, proteins are also the real workhorses of the cell.
  211. decoding
    the act of converting coded text into plain text
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  212. differentiate
    acquire a distinct character
    At some point, however, these cells begin to differentiate, or change into specific cell types.
  213. on and off
    not regularly
    For example, certain sequences indicate the beginning and end of genes, sites for initiating replication and recombination, or provide landing sites for proteins that turn genes on and off.
  214. pigment
    dry coloring material
    When you look at the human species, you see evidence of a process called genetic variation, that is, there are immediately recognizable differences in human traits, such as hair and eye color, skin pigment, and height.
  215. regulatory
    restricting according to rules or principles
    Structural Genes, Junk DNA, and Regulatory Sequences Over 98 percent of the genome is of unknown function.
  216. chemical process
    (chemistry) any process determined by the atomic and molecular composition and structure of the substances involved
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  217. sequential
    in regular succession without gaps
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  218. chemically
    with respect to chemistry
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  219. functional
    designed for or capable of a particular use
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  220. structural
    relating to the composition of something
    Other fundamental structural differences exist.
  221. pairing
    the act of grouping things or people in pairs
    The two strands are connected to each other by chemical pairing of each base on one strand to a specific partner on the other strand.
  222. interaction
    mutual or reciprocal dealings or influence
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  223. subset
    a group whose members are members of another group
    Cells also regulate gene expression by post-transcriptional modification; by allowing only a subset of the mRNAs to go on to translation; or by restricting translation of specific mRNAs to only when the product is needed.
  224. variation
    the process of being or becoming different
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  225. Bering Strait
    a strait connecting the Bering Sea to the Arctic Ocean
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  226. chemical change
    process determined by substances' composition and structure
    Transcription can also be regulated by subtle variations in DNA structure and by chemical changes in the bases to which transcription factors bind.
  227. phosphate
    a salt of phosphoric acid
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  228. Crick
    English biochemist who (with Watson in 1953) helped discover the helical structure of DNA (1916-2004)
    Francis Crick Although DNA is the carrier of genetic information in a cell, proteins do the bulk of the work.
  229. randomly
    in a random manner
    Genetic mutations occur randomly, and the effect of a small number of mutations on a single gene may be minimal.
  230. specify
    be particular about
    Life is specified by genomes.
  231. anemia
    a deficiency of red blood cells
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  232. developmental
    of or relating to or constituting development
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  233. maturation
    the act of coming to full development
    The maturation of germ line stem cells into gametes requires the diploid number of each chromosome be reduced by half.
  234. evolve
    undergo development
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  235. evolutionary
    relating to the development of a species
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  236. deleterious
    harmful to living things
    This process may have evolved as a way to limit the deleterious effects of mutations.
  237. base
    lowest support of a structure
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  238. antibody
    a protein that produces an immune response
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  239. overshadow
    cast a shadow upon
    Just how the dominant allele overshadows the other allele depends on the gene, but in some cases the dominant gene produces a gene product that the other allele does not.
  240. molecular
    relating to the simplest units of an element or compound
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  241. nucleus
    a part of the cell responsible for growth and reproduction
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  242. alpha
    the 1st letter of the Greek alphabet
    To further complicate matters, globin is made from two different protein chains: an alpha-like chain coded for on chromosome 16; and a beta-like chain coded for on chromosome 11.
  243. acid
    a sour water-soluble compound with a pH of less than 7
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  244. humans
    all of the living human inhabitants of the earth
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  245. geneticist
    a biologist who specializes in heredity
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  246. interact
    do something together or with others
    It may also interact with other factors to determine which alpha gene is turned on.
  247. pea
    a leguminous plant of the genus Pisum with small white flowers and long green pods containing edible green seeds
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  248. function
    what something is used for
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  249. sense of direction
    an awareness of your orientation in space
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  250. researcher
    a scientist devoted to systematic investigation
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  251. ATP
    a nucleotide derived from adenosine that occurs in muscle tissue; the major source of energy for cellular reactions
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  252. viral
    relating to or caused by a virus
    For example, some viral genes are known to have high mutation rates.
  253. switch on
    cause to operate by flipping a switch
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  254. skeletal
    relating to a structure made of bones and cartilage
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  255. connective tissue
    tissue of mesodermal origin consisting of e.g. collagen fibroblasts and fatty cells; supports organs and fills spaces between them and forms tendons and ligaments
    An example is Marfan's syndrome, where there is a defect in the gene coding for a connective tissue protein.
  256. inexact
    not precise
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  257. variant
    something a little different from others of the same type
    There may be more than two alleles, or variants, for a given gene in a population, but only two alleles can be found in an individual.
  258. abnormality
    an abnormal physical condition resulting from defective genes or developmental deficiencies
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  259. long chain
    (chemistry) a relatively long chain of atoms in a molecule
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  260. prediction
    a statement made about the future
    Gene Prediction Using Computers When the complete mRNA sequence for a gene is known, computer programs are used to align the mRNA sequence with the appropriate region of the genomic DNA sequence.
  261. segregation
    the act of keeping apart
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  262. linkage
    the act of connecting things
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  263. devastate
    cause extensive destruction or ruin utterly
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  264. linked
    connected, as railway cars or trailer trucks
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  265. albino
    a person who lacks pigment and has pale skin, white hair, and pink eyes
    Rather, its dominant allele is necessary for the development of any skin pigment, and its recessive homozygous state results in the albino condition, regardless of how many other pigment genes may be present.
  266. regulate
    bring into conformity with rules, principles, or usage
    Cells also regulate gene expression by post-transcriptional modification; by allowing only a subset of the mRNAs to go on to translation; or by restricting translation of specific mRNAs to only when the product is needed.
  267. align
    arrange so as to be parallel or straight
    Gene Prediction Using Computers When the complete mRNA sequence for a gene is known, computer programs are used to align the mRNA sequence with the appropriate region of the genomic DNA sequence.
  268. process
    a particular course of action intended to achieve a result
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  269. terminate
    bring to an end or halt
    The so-called 5' end terminates in a 5' phosphate group (-PO4); the 3' end terminates in a 3' hydroxyl group (-OH).
  270. marker
    a writing implement for making a mark
    The highly variable nature of these sequences makes them an excellent "marker" by which individuals can be identified based on their unique pattern of their satellite DNA.
  271. adaptive
    having a capacity for change
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  272. occur
    come to pass
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  273. inherited
    occurring among members of a family usually by heredity
    Unlike nuclear DNA (the DNA found within the nucleus of a cell), half of which comes from our mother and half from our father, mitochondrial DNA is only inherited from our mother.
  274. clone
    a genetically identical organism derived from a single cell
    Studying garden peas might seem trivial to those of us who live in a modern world of cloned sheep and gene transfer, but Mendel's simple approach led to fundamental insights into genetic inheritance, known today as Mendel's Laws.
  275. type
    a subdivision of a particular kind of thing
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  276. bacterium
    a single-celled or noncellular organism lacking chlorophyll
    Therefore, amoeba must always have a symbiotic relationship with an aerobic bacterium.
  277. oxygen
    a colorless, odorless gas that is essential for respiration
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  278. repetitive
    persistent
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  279. egg
    animal reproductive body consisting of an ovum or embryo together with nutritive and protective envelopes; especially the thin-shelled reproductive body laid by e.g. female birds
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  280. decipher
    convert something hidden or secretive into ordinary language
    Deciphering the code in the resulting mRNA is a little more complex.
  281. inhibit
    limit the range or extent of
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  282. transfusion
    the introduction of blood or plasma into a vein or artery
    Treatments include blood transfusions, iron chelators, and bone marrow transplants.
  283. refer
    make a remark that calls attention to
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  284. cancerous
    relating to or affected with abnormal cell growth
    Although most defective cells die quickly, some can persist and may even become cancerous if the mutation affects the ability to regulate cell growth.
  285. restrict
    limit access to
    With so much DNA in the genome, why restrict transcription to a tiny portion, and why make that tiny portion work overtime to produce many alternate transcripts?
  286. attributable
    indicating the source or cause of something
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  287. yolk
    material of an egg stored for the nutrition of an embryo
    During the first few weeks of life, embryonic globin is expressed in the yolk sac of the egg.
  288. ultraviolet
    having wavelengths shorter than light but longer than X-rays
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  289. transcribe
    write out, as from speech or notes
    Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  290. paired
    used of gloves, socks, etc.
    This process creates a stretch of hybrid DNA (bottom panel) in which the single strand of one duplex is paired with its complement from the other duplex.
  291. safety net
    a large strong net to catch circus acrobats who fall or jump from a trapeze
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  292. sibling
    a person's brother or sister
    With such a range of possibilities, it is amazing that siblings look so much alike!
  293. factor
    anything that contributes causally to a result
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  294. connective
    connecting or tending to connect
    An example is Marfan's syndrome, where there is a defect in the gene coding for a connective tissue protein.
  295. chemical
    produced by reactions involving atomic or molecular changes
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  296. tissue
    part of an organism consisting of an aggregate of cells
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  297. spatial
    pertaining to the expanse in which things are located
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  298. duplicate
    a copy that corresponds to an original exactly
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  299. gestation
    the period during which an embryo develops
    By week five of gestation, globin is expressed in early liver cells.
  300. attach to
    be part of
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  301. redundancy
    the attribute of being superfluous and unneeded
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  302. be active
    be in a state of action
    This is because the gene product is active in many places in the body.
  303. fertilize
    provide with fertilizers or add nutrients to
    In multicellular organisms, every cell in the adult is ultimately derived from the single-cell fertilized egg.
  304. mechanism
    device consisting of a piece of machinery
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  305. turn on
    cause to operate by flipping a switch
    In fact, at each stage of development, different globin genes are turned on and off through a process of transcriptional regulation called "switching".
  306. combination
    the act of bringing things together to form a new whole
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  307. locus
    the scene of any event or action
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  308. small change
    a trifling sum of money
    However, an individual having many genes each with small changes could weaken the individual, and thus the species.
  309. pass on
    place into the hands or custody of
    In this way, the information in a DNA sequence is readily copied and passed on to the next generation of cells.
  310. theory of evolution
    (biology) a scientific theory of the origin of species of plants and animals
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  311. edit
    prepare for publication or presentation by revising
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  312. stabilizing
    causing to become constant, steady, or secure
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  313. Alzheimer's disease
    a disease that causes loss of memory and brain function
    These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases.
  314. sac
    an enclosed space
    During the first few weeks of life, embryonic globin is expressed in the yolk sac of the egg.
  315. attache
    a specialist assigned to the staff of a diplomatic mission
    For prokaryotes, the ribosome recognizes and attaches at the sequence AGGAGGU on the mRNA, called the Shine-Delgarno sequence, that appears just upstream from the methionine (AUG) codon.
  316. transcribed
    recorded for broadcast
    Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  317. syndrome
    a pattern of symptoms indicative of some disease
    An example is Marfan's syndrome, where there is a defect in the gene coding for a connective tissue protein.
  318. translation
    rendering in another language with the same meaning
    This must be done both during the transcription and the translation process.
  319. bind
    secure with or as if with ropes
    It is initiated when an enzyme, RNA polymerase, binds to a site on the DNA called a promoter sequence.
  320. parent
    a father or mother
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  321. nutrient
    any substance that can be metabolized to give energy
    They perform such functions as transporting nutrients into the cell; synthesizing new DNA, RNA, and protein molecules; and transmitting chemical signals from outside to inside the cell, as well as throughout the cell-both critical to the process of making proteins.
  322. amaze
    affect with wonder
    Perhaps as amazing as Mendel's discoveries was the fact that his work was largely ignored by the scientific community for over 30 years!
  323. identify
    recognize as being
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  324. link
    connect, fasten, or put together two or more pieces
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  325. transmit
    send from one person or place to another
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  326. germ
    a structure from which tissue can develop into an organism
    One early type of differentiated cell is the germ line cell, which may ultimately develop into mature gametes.
  327. component
    one of the individual parts making up a larger entity
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA.
  328. specialized
    developed or designed for a particular activity or function
    It first requires that the mRNA leave the nucleus and associate with a large complex of specialized RNAs and proteins that, collectively, are called the ribosome.
  329. marrow
    network of connective tissue filling the cavities of bones
    By birth, red blood cells are being produced, and globin is expressed in the bone marrow.
  330. express
    communicate beliefs or opinions
    From One Gene-One Protein to a More Global Perspective Only a small percentage of the 3 billion bases in the human genome becomes an expressed gene product.
  331. product
    an artifact that has been created by someone or some process
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  332. reproductive
    producing new life or offspring
    If a mutation occurs in the developing germ line cell, it may persist until that individual reaches reproductive age.
  333. modern man
    subspecies of Homo sapiens; includes all modern races
    It has also been used to identify an ancient maternal lineage from which modern man evolved.
  334. individual
    being or characteristic of a single thing or person
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  335. virus
    infectious agent that replicates itself within living hosts
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  336. scientist
    a person with advanced knowledge of empirical fields
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  337. characterize
    be typical of
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  338. cardiovascular
    of or pertaining to or involving the heart and blood vessels
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  339. pinpoint
    the sharp point of a pin
    Today, molecular genetic techniques exist that can assist researchers in tracking the transmission of traits by pinpointing the location of individual genes, identifying allelic variants, and identifying those traits that are caused by multiple genes.
  340. switching
    the act of changing one thing or position for another
    Gene Switching: Turning Genes On and Off The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  341. determine
    find out or learn with certainty, as by making an inquiry
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  342. imprint
    mark or stamp with or as if with pressure
    Methylation also plays an important role in genomic imprinting, which occurs when both maternal and paternal alleles are present but only one allele is expressed while the other remains inactive.
  343. multiple
    having or involving more than one part or entity
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  344. numerically
    in number; with regard to numbers
    Regulatory Sequences A class of sequences called regulatory sequences makes up a numerically insignificant fraction of the genome but provides critical functions.
  345. survival of the fittest
    a natural process resulting in the evolution of organisms best adapted to the environment
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  346. specific
    stated explicitly or in detail
    The two strands are connected to each other by chemical pairing of each base on one strand to a specific partner on the other strand.
  347. deciphered
    converted from cryptic to intelligible language
    After that, it was not long before the genetic code for all 20 amino acids was deciphered.
  348. immune system
    the cells in the body that work together to fight disease
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  349. progeny
    the immediate descendants of a person
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  350. Laws
    the first of three divisions of the Hebrew Scriptures comprising the first five books of the Hebrew Bible considered as a unit
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  351. stranded
    cut off or left behind
    The DNA that constitutes a gene is a double-stranded molecule consisting of two chains running in opposite directions.
  352. regulation
    the act of bringing to uniformity
    In most cases, the polymerase is aided by a group of proteins called "transcription factors" that perform specialized functions, such as DNA sequence recognition and regulation of the polymerase's enzyme activity.
  353. sexually
    with respect to sexuality
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  354. anti
    not in favor of (an action or proposal etc.)
    A mutation within such an enzyme may result in a new form that still allows the virus to infect its host but that is no longer blocked by an anti-viral drug.
  355. mammal
    a warm-blooded vertebrate having the skin covered with hair
    The most highly repeated sequences found so far in mammals are called "satellite DNA" because their unusual composition allows them to be easily separated from other DNA.
  356. compose
    form the substance of
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  357. adult
    a fully developed person from maturity onward
    In the adult, red blood cells do not contain DNA for making new globin; they are ready-made with all of the hemoglobin they will need.
  358. chain
    a series of (usually metal) rings or links fitted into one another to make a flexible ligament
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  359. fundamental principle
    principles from which other truths can be derived
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  360. synonymous
    meaning the same or nearly the same
    Mutations can either be synonymous, in which the variation still results in a codon for the same amino acid or non-synonymous, in which the variation results in a codon for a different amino acid.
  361. expressed
    communicated in words
    From One Gene-One Protein to a More Global Perspective Only a small percentage of the 3 billion bases in the human genome becomes an expressed gene product.
  362. Bering
    Danish explorer who explored the northern Pacific Ocean for the Russians and discovered the Bering Strait (1681-1741)
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  363. assortment
    the act of distributing things into classes of the same type
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  364. call
    utter a sudden loud cry
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  365. genetics
    the study of heredity and variation in organisms
    Molecular Genetics: The Study of Heredity, Genes, and DNA As we have just learned, DNA provides a blueprint that directs all cellular activities and specifies the developmental plan of multicellular organisms.
  366. structure
    a complex entity made of many parts
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  367. contain
    hold or have within
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  368. accumulate
    get or gather together
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  369. lineage
    the kinship relation between an individual and progenitors
    It has also been used to identify an ancient maternal lineage from which modern man evolved.
  370. integrate
    make into a whole or make part of a whole
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  371. Tay
    a branch of the Tai languages
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  372. correlated
    mutually related
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  373. inactive
    not engaged physically or mentally
    The methylation status of DNA often correlates with its functional activity, where inactive genes tend to be more heavily methylated.
  374. disease
    an impairment of health
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  375. blueprint
    something intended as a guide for making something else
    Molecular Genetics: The Study of Heredity, Genes, and DNA As we have just learned, DNA provides a blueprint that directs all cellular activities and specifies the developmental plan of multicellular organisms.
  376. complement
    something added to embellish or make perfect
    This process creates a stretch of hybrid DNA (bottom panel) in which the single strand of one duplex is paired with its complement from the other duplex.
  377. infect
    contaminate with a disease
    A mutation within such an enzyme may result in a new form that still allows the virus to infect its host but that is no longer blocked by an anti-viral drug.
  378. transmission
    communication by means of sent signals
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  379. Charles Darwin
    English natural scientist who formulated a theory of evolution by natural selection (1809-1882)
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  380. produce
    bring forth or yield
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  381. unique
    the single one of its kind
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  382. complicate
    make less simple
    To further complicate matters, globin is made from two different protein chains: an alpha-like chain coded for on chromosome 16; and a beta-like chain coded for on chromosome 11.
  383. usable
    capable of being put to use
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  384. only if
    never except when
    On the other hand, a recessive allele will be expressed only if there are two identical copies of that allele, or for a male, if one copy is present on the X chromosome.
  385. alternate
    go back and forth
    With so much DNA in the genome, why restrict transcription to a tiny portion, and why make that tiny portion work overtime to produce many alternate transcripts?
  386. redundant
    more than is needed, desired, or required
    These redundant codons usually differ at the third position.
  387. full-blown
    fully ripe; at the height of bloom
    The individual in whom such a nonpenetrant mutant gene exists will be phenotypically normal but still capable of passing the deleterious gene on to offspring, who may exhibit the full-blown disease.
  388. congenital
    present at birth but not necessarily hereditary
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  389. mask
    a covering to disguise or conceal the face
    These factors each exhibit a characteristic dominant, co-dominant, or recessive expression, and those that are dominant will mask the expression of those that are recessive.
  390. decreased
    made less in size or amount or degree
    Thalassemias are a group of diseases characterized by the absence or decreased production of normal globin, and thus hemoglobin, leading to decreased oxygen in the system.
  391. complex
    complicated in structure
    The ribosome complex uses mRNA as a template to synthesize the exact protein coded for by the gene.
  392. independently
    on your own; without outside help
    Law of Independent Assortment: In the gametes, alleles of one gene separate independently of those of another gene, and thus all possible combinations of alleles are equally probable.
  393. input
    signal going into an electronic system
    This exquisite control requires multiple regulatory input points.
  394. nascent
    being born or beginning
    This stem then causes the polymerase to trip and release the nascent, or newly formed, mRNA.
  395. inheritance
    hereditary succession to a title or an office or property
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  396. at first glance
    immediately
    Yet, we appear, at least at first glance, to be a far more complex organism.
  397. stabilize
    support and make steadfast
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  398. heredity
    the transmission of genetic factors to the next generation
    Mechanisms of Genetic Variation and Heredity Does Everyone Have the Same Genes?
  399. biology
    the science that studies living organisms
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  400. maternal
    characteristic of a mother
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  401. differentiated
    made different or shown to be different
    One early type of differentiated cell is the germ line cell, which may ultimately develop into mature gametes.
  402. depend on
    be contingent on
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  403. provide
    give something useful or necessary to
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  404. modification
    the act of making something different
    Cells also regulate gene expression by post-transcriptional modification; by allowing only a subset of the mRNAs to go on to translation; or by restricting translation of specific mRNAs to only when the product is needed.
  405. junk
    the remains of something that has been destroyed or broken up
    Structural Genes, Junk DNA, and Regulatory Sequences Over 98 percent of the genome is of unknown function.
  406. blood
    the fluid that is pumped through the body by the heart
    Hemoglobin transports oxygen to our tissues via red blood cells.
  407. differ
    be dissimilar or unlike
    These redundant codons usually differ at the third position.
  408. biologist
    a scientist who studies living organisms
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  409. turn off
    cause to stop operating by disengaging a switch
    When the repressor protein binds to the operator, RNA polymerase is prevented from initiating transcription, and gene expression is turned off.
  410. affect
    have an influence upon
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  411. precursor
    something indicating the approach of something or someone
    Mutations that occur in somatic cells-any cell in the body except gametes and their precursors-will not be passed on to the next generation.
  412. restricting
    restricting the scope or freedom of action
    Cells also regulate gene expression by post-transcriptional modification; by allowing only a subset of the mRNAs to go on to translation; or by restricting translation of specific mRNAs to only when the product is needed.
  413. deafness
    partial or complete loss of hearing
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  414. symptom
    a sensation associated with a particular disease
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  415. line up
    form a line
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  416. offspring
    the immediate descendants of a person or organism
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  417. expression
    the communication of your beliefs or opinions
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  418. contribute
    give, provide, or supply something
    There is even a theory, the Mitochondrial Theory of Aging, that suggests that accumulation of mutations in mitochondria contributes to, or drives, the aging process.
  419. reproduce
    make a copy or equivalent of
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  420. derive
    come from
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  421. reconstruct
    build again
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  422. pair
    a set of two similar things considered as a unit
    The two strands are connected to each other by chemical pairing of each base on one strand to a specific partner on the other strand.
  423. propagate
    multiply through reproduction
    This will allow the virus to propagate freely in its environment.
  424. estimate
    judge tentatively
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  425. for example
    as an example
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  426. generation
    group of genetically related organisms in a line of descent
    In this way, the information in a DNA sequence is readily copied and passed on to the next generation of cells.
  427. liver
    large and complicated reddish-brown glandular organ located in the upper right portion of the abdominal cavity; secretes bile and functions in metabolism of protein and carbohydrate and fat; synthesizes substances involved in the clotting of the blood; synthesizes vitamin A; detoxifies poisonous substances and breaks down worn-out erythrocytes
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  428. aging
    the organic process of growing older
    There is even a theory, the Mitochondrial Theory of Aging, that suggests that accumulation of mutations in mitochondria contributes to, or drives, the aging process.
  429. alternatively
    in place of, or as an alternative to
    However, of the approximately 1 percent of our genome that is expressed, 40 percent is alternatively spliced to produce multiple proteins from a single gene.
  430. responsible for
    being the agent or cause
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  431. sickle
    an edge tool for cutting grass or crops
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  432. unrelated
    lacking a logical or causal linkage
    If the child is BB or BO, they have blood type B. If the child is OO, he or she will have blood type O. Pleiotropism, or pleotrophy, refers to the phenomenon in which a single gene is responsible for producing multiple, distinct, and apparently unrelated phenotypic traits, that is, an individual can exhibit many different phenotypic outcomes.
  433. introduce
    bring something new to an environment
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  434. example
    an item of information that is typical of a class or group
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  435. generate
    bring into existence
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  436. degeneration
    the process of declining from a higher to a lower level
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  437. hormone
    the secretion of an endocrine gland transmitted by the blood
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  438. begin
    set in motion, cause to start
    This provides a reliable indication of the beginning and end of the coding region for that gene.
  439. biological
    pertaining to life and living things
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  440. primer
    an introductory textbook
    The last section of the genetic primer concludes with a discussion of some of the laboratory tools and technologies that allow researchers to study cells and their DNA.
  441. botanist
    a biologist specializing in the study of plants
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  442. carry
    physically move while supporting, by vehicle, hands, or body
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  443. fall off
    come off
    However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria.
  444. carrier
    a person or firm transporting people or goods or messages
    Francis Crick Although DNA is the carrier of genetic information in a cell, proteins do the bulk of the work.
  445. different
    unlike in nature, quality, form, or degree
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  446. basic
    reduced to the simplest and most significant form possible
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  447. pattern
    a repeated design, structure, or arrangement
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  448. exhibit
    make visible or apparent
    These factors each exhibit a characteristic dominant, co-dominant, or recessive expression, and those that are dominant will mask the expression of those that are recessive.
  449. Parkinson's
    a degenerative disorder of the central nervous system characterized by tremor and impaired muscular coordination
    These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases.
  450. ready-made
    made for purchase and immediate use
    In the adult, red blood cells do not contain DNA for making new globin; they are ready-made with all of the hemoglobin they will need.
  451. bacteria
    single-celled organisms that can cause disease
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  452. turned on
    feeling great sexual desire
    In fact, at each stage of development, different globin genes are turned on and off through a process of transcriptional regulation called "switching".
  453. nuclear
    constituting the core or central part
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  454. switch
    device for making or breaking the connections in a circuit
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  455. defect
    a failing or deficiency
    These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases.
  456. mature
    having reached full natural growth or development
    This editing process removes the introns, joins the exons together, and adds unique features to each end of the transcript to make a "mature" mRNA.
  457. transfer
    move from one place to another
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  458. involve
    contain as a part
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  459. immature
    not yet fully developed
    In some organisms, the egg houses store immature mRNAs that become translationally active only after fertilization.
  460. recognize
    perceive to be something or something you can identify
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  461. associate
    bring or come into action
    These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases.
  462. copy
    a thing made to be similar or identical to another thing
    In this way, the information in a DNA sequence is readily copied and passed on to the next generation of cells.
  463. transmitting
    the act of sending a message
    They perform such functions as transporting nutrients into the cell; synthesizing new DNA, RNA, and protein molecules; and transmitting chemical signals from outside to inside the cell, as well as throughout the cell-both critical to the process of making proteins.
  464. decrease
    a change downward
    Thalassemias are a group of diseases characterized by the absence or decreased production of normal globin, and thus hemoglobin, leading to decreased oxygen in the system.
  465. minimal
    the least possible
    Genetic mutations occur randomly, and the effect of a small number of mutations on a single gene may be minimal.
  466. accumulation
    a gain or increase in something over time
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  467. unlock
    open the lock of
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  468. flow from
    be the result of
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  469. persist
    refuse to stop
    Although most defective cells die quickly, some can persist and may even become cancerous if the mutation affects the ability to regulate cell growth.
  470. self-preservation
    preservation of yourself from harm
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  471. modern world
    the circumstances and ideas of the present age
    Studying garden peas might seem trivial to those of us who live in a modern world of cloned sheep and gene transfer, but Mendel's simple approach led to fundamental insights into genetic inheritance, known today as Mendel's Laws.
  472. accommodating
    obliging; willing to do favors
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  473. database
    an organized body of related information
    This process is dependent on computer programs that search for these patterns in various sequence databases and then make predictions about the existence of a gene.
  474. binding
    executed with proper legal authority
    The Influence of DNA Structure and Binding Domains Sequences that are important in regulating transcription do not necessarily code for transcription factors or other proteins.
  475. good example
    a person or thing to be imitated; ideal model
    Control of the human blood group system provides a good example of co-dominant alleles.
  476. depict
    give a description of
    Each DNA base is made up of the sugar 2'-deoxyribose linked to a phosphate group and one of the four bases depicted above: adenine (top left), cytosine (top right), guanine (bottom left), and thymine (bottom right).
  477. incorporate
    make into a whole or make part of a whole
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  478. Alzheimer's
    a disease that causes loss of memory and brain function
    These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases.
  479. include
    have as a part; be made up out of
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  480. site
    the piece of land on which something is located
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  481. transplant
    transfer from one place or period to another
    Treatments include blood transfusions, iron chelators, and bone marrow transplants.
  482. recognizable
    easily perceived; easy to become aware of
    When you look at the human species, you see evidence of a process called genetic variation, that is, there are immediately recognizable differences in human traits, such as hair and eye color, skin pigment, and height.
  483. generator
    someone who originates, causes, or initiates something
    Thus, they are often referred to as the power generators of the cell.
  484. blindness
    the state of being blind or lacking sight
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  485. make up
    form or compose
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  486. hereditary
    occurring among members of a family usually by heredity
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  487. stagger
    walk with great difficulty
    Only one of these gametes will combine with one of the nearly 17 million possible combinations from the other parent, generating a staggering potential for individual variation.
  488. stem
    cylinder forming a long narrow part of something
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  489. insertion
    the act of putting one thing into another
    Mutations in the new DNA strand can manifest as base substitutions, such as when a single base gets replaced with another; deletions, where one or more bases are left out; or insertions, where one or more bases are added.
  490. Same
    a member of an indigenous nomadic people living in northern Scandinavia and herding reindeer
    Mechanisms of Genetic Variation and Heredity Does Everyone Have the Same Genes?
  491. affecting
    arousing emotion
    These sequences can be cis-acting (affecting genes that are adjacent to the sequence) or trans-acting (affecting expression of the gene from a distant site), even on another chromosome.
  492. inadvertently
    without knowledge or intention
    For example, as your skin cells prepare to divide and produce new skin cells, errors may be inadvertently introduced when the DNA is duplicated, resulting in a daughter cell that contains the error.
  493. defective
    having a flaw
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  494. unanswered
    not returned in kind
    However, this method can leave many questions unanswered, particularly for traits that are a result of the interaction between several different genes.
  495. give rise
    cause to happen, occur or exist
    They then begin to divide, giving rise to cells that differentiate into tissue-specific cell types.
  496. uncover
    make visible
    Although often referred to as "junk" DNA, scientists are beginning to uncover the function of many of these intergenic sequences-the DNA found between genes.
  497. functioning
    performing or able to perform its regular purpose
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  498. control
    power to direct or determine
    This system also precisely controls the amount of a gene product that is produced and can further modify the product after it is made.
  499. blue-eyed
    having blue eyes
    This multigenic system explains why two blue-eyed individuals can have a brown-eyed child.
  500. instruct
    impart skills or knowledge to
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  501. transport
    move something or somebody around
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  502. human
    a person; a hominid with a large brain and articulate speech
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  503. role
    the actions and activities assigned to a person or group
    DNA directs the synthesis of a variety of RNA molecules, each with a unique role in cellular function.
  504. fundamental
    serving as an essential component
    Other fundamental structural differences exist.
  505. evolution
    sequence of events involved in the development of a species
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  506. interrupt
    make a break in
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  507. observable
    capable of being seen or noticed
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  508. dominance
    the power or right to give orders or make decisions
    Law of Dominance: Each trait is determined by two factors (alleles), inherited one from each parent.
  509. environment
    the totality of surrounding conditions
    Mutations also provide a species with the opportunity to adapt to new environments, as well as to protect a species from new pathogens.
  510. fuse
    any igniter used to initiate the burning of a propellant
    In the first stages of development, a sperm cell and egg cell fuse.
  511. migration
    the movement of persons from one locality to another
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  512. information
    knowledge acquired through study or experience
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  513. determining
    having the power or quality of deciding
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  514. energy
    forceful exertion
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  515. unit
    a single undivided whole
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  516. attach
    be in contact with
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  517. integrated
    formed or united into a whole
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  518. progression
    the act of moving forward, as toward a goal
    However, evidence suggests that the mutations contribute to the progression of both diseases.
  519. regulated
    controlled or governed according to rule or principle or law
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  520. responsible
    worthy of or requiring trust; held accountable
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  521. controlling
    able to control or determine policy
    Controlling Transcription Promoters and Regulatory Sequences Transcription is the process whereby RNA is made from DNA.
  522. residue
    matter that remains after something has been removed
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  523. result
    something that follows as a consequence
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  524. eyed
    having an eye or eyes or eyelike feature especially as specified; often used in combination
    This multigenic system explains why two blue-eyed individuals can have a brown-eyed child.
  525. non
    negation of a word or group of words
    Another class of non-coding DNA is the "pseudogene", so named because it is believed to be a remnant of a real gene that has suffered mutations and is no longer functional.
  526. core
    the center of an object
    The Core Gene Sequence: Introns and Exons Genes make up about 1 percent of the total DNA in our genome.
  527. counteract
    act in opposition to
    Telomeres play a critical role in chromosome replication and maintenance by counteracting the tendency of the chromosome to otherwise shorten with each round of replication.
  528. precede
    be earlier in time
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  529. shorten
    make short or shorter
    Telomeres play a critical role in chromosome replication and maintenance by counteracting the tendency of the chromosome to otherwise shorten with each round of replication.
  530. feedback
    the process in which output of a system is returned to input
    At other levels, cells regulate gene expression through DNA folding, chemical modification of the nucleotide bases, and intricate "feedback mechanisms" in which some of the gene's own protein product directs the cell to cease further protein production.
  531. Huntington
    a city of western West Virginia on the Ohio river at the mouth of the Kanawha
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  532. single
    existing alone or consisting of one entity or part or aspect or individual
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  533. reliable
    able to be depended on; consistent or steady
    This provides a reliable indication of the beginning and end of the coding region for that gene.
  534. normally
    under normal conditions
    Men normally have an X and a Y combination of sex chromosomes, whereas women have two X's.
  535. transmitted
    occurring among members of a family usually by heredity
    Yet, in the process of making a protein, the encoded information must be faithfully transmitted first to RNA then to protein.
  536. skin
    a natural protective body covering and site of the sense of touch
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  537. toxic
    of or relating to or caused by a poison
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  538. survival
    the state of remaining alive
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  539. cycle
    a periodically repeated sequence of events
    Genetic Variation The cell cycle is the process that a cell undergoes to replicate.
  540. oftentimes
    many times at short intervals
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  541. male
    being the sex that performs the fertilizing function
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  542. develop
    progress or evolve through a process of natural growth
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  543. pedigree
    the ancestry or lineage of an individual
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  544. Recent
    the geologic epoch from about 11,700 years ago to the present
    Recent research points to the "Xist" gene on the X chromosome as being responsible for a sequence of events that silences one of the X chromosomes in women.
  545. activate
    put in motion
    Similar mechanisms serve to activate mRNAs at other stages of development and differentiation, such as when specific protein products are needed.
  546. divide
    a serious disagreement between two groups of people
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  547. location
    the act of putting something in a certain place
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  548. availability
    the quality of being at hand when needed
    Yet, it is important to recognize that progress in any scientific field depends on the availability of experimental tools that allow researchers to make new scientific observations and conduct novel experiments.
  549. require
    have need of
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  550. coiled
    curled or wound in rings or spirals
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  551. bear in mind
    keep in mind
    One should bear in mind that not all mutations are bad.
  552. heart disease
    a disease of the heart
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  553. benign
    kind in disposition or manner
    This does not mean, however, that somatic cell mutations, sometimes called acquired mutations, are benign.
  554. potential
    existing in possibility
    Now the mutation has the potential to be passed on to the next generation.
  555. color
    a visual attribute of things from the light they emit
    When you look at the human species, you see evidence of a process called genetic variation, that is, there are immediately recognizable differences in human traits, such as hair and eye color, skin pigment, and height.
  556. scenario
    a postulated sequence of possible events
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  557. collectively
    in conjunction with; combined
    It first requires that the mRNA leave the nucleus and associate with a large complex of specialized RNAs and proteins that, collectively, are called the ribosome.
  558. region
    the extended spatial location of something
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  559. react
    show a response to something
    As stated previously, the chemical properties of the four DNA bases differ slightly, providing each base with unique opportunities to chemically react with other molecules.
  560. shuffling
    the act of mixing cards haphazardly
    Mitochondrial DNA also does not recombine; there is no shuffling of genes from one generation to the other, as there is with nuclear genes.
  561. each
    separately for every person or thing
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  562. bump
    an impact (as from a collision)
    Mutations can also cause a frame shift, which occurs when the variation bumps the reference point for reading the genetic code down a base or two and results in loss of part, or sometimes all, of that gene product.
  563. surmise
    infer from incomplete evidence
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  564. satellite
    any celestial body orbiting around a planet or star
    The most highly repeated sequences found so far in mammals are called "satellite DNA" because their unusual composition allows them to be easily separated from other DNA.
  565. chains
    metal shackles; for hands or legs
    The DNA that constitutes a gene is a double-stranded molecule consisting of two chains running in opposite directions.
  566. immune
    of the condition in which an organism can resist disease
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  567. addition
    the arithmetic operation of summing
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  568. operator
    an agent that operates some apparatus or machine
    Close to the promoter region is another cis-acting site called the operator, the target for the repressor protein.
  569. enhance
    increase
    It does not suggest that a mutation is derived from the environment, but that survival in that environment is enhanced by a particular mutation.
  570. random
    lacking any definite plan or order or purpose
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  571. substitution
    putting one thing or person in the place of another
    Mutations in the new DNA strand can manifest as base substitutions, such as when a single base gets replaced with another; deletions, where one or more bases are left out; or insertions, where one or more bases are added.
  572. kidney
    either of two bean-shaped excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine
    Some will become blood cells or kidney cells, whereas others may become nerve or brain cells.
  573. are
    a unit of surface area equal to 100 square meters
    A DNA chain is made up of four chemical bases: adenine (A) and guanine (G), which are called purines, and cytosine (C) and thymine (T), referred to as pyrimidines.
  574. gender
    properties that distinguish organisms on the basis of sex
    Subsequently, genes on that chromosome that do not code for gender are expressed in the male phenotype, even if they are recessive.
  575. take place
    come to pass
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  576. independent
    free from external control and constraint
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  577. intervene
    be placed or located between other things
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  578. speculate
    reflect deeply on a subject
    It is speculated that there may be other genes that control other factors, such as the amount of pigment deposited in the iris.
  579. regulating
    the act of controlling or directing according to rule
    The Influence of DNA Structure and Binding Domains Sequences that are important in regulating transcription do not necessarily code for transcription factors or other proteins.
  580. depend
    be determined by something else
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  581. tracking
    the pursuit by following tracks or marks they left behind
    Today, molecular genetic techniques exist that can assist researchers in tracking the transmission of traits by pinpointing the location of individual genes, identifying allelic variants, and identifying those traits that are caused by multiple genes.
  582. stumble
    miss a step and fall or nearly fall
    Transcription terminates when the polymerase stumbles upon a termination, or stop signal.
  583. precedence
    status established in order of importance or urgency
    For some alleles, their influence on phenotype takes precedence over all other alleles.
  584. allow
    make it possible for something to happen
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  585. unclear
    poorly stated or described
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  586. direct
    proceeding without interruption
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  587. harmful
    causing or capable of causing damage
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  588. ultimately
    as the end result of a succession or process
    Ultimately, however, the genetic code resides in DNA because only DNA is passed from generation to generation.
  589. fold
    bend or lay so that one part covers the other
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  590. overtime
    work done in addition to regular working hours
    With so much DNA in the genome, why restrict transcription to a tiny portion, and why make that tiny portion work overtime to produce many alternate transcripts?
  591. diabetes
    a disease characterized by high glucose levels in the blood
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  592. normal
    being approximately average or within certain limits
    Thalassemias are a group of diseases characterized by the absence or decreased production of normal globin, and thus hemoglobin, leading to decreased oxygen in the system.
  593. large number
    a large indefinite number
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  594. characteristic
    typical or distinctive
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  595. hybrid
    the offspring of genetically dissimilar parents or stock
    This process creates a stretch of hybrid DNA (bottom panel) in which the single strand of one duplex is paired with its complement from the other duplex.
  596. complexity
    the quality of being intricate and compounded
    A person may wonder how this increased complexity is achieved.
  597. membrane
    a sheet of tissue that lines or connects organs or cells
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  598. computer
    a machine for performing calculations automatically
    Gene Prediction Using Computers When the complete mRNA sequence for a gene is known, computer programs are used to align the mRNA sequence with the appropriate region of the genomic DNA sequence.
  599. critical
    of a serious examination and judgment of something
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  600. theory
    a belief that can guide behavior
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  601. culprit
    someone or something responsible for harm or wrongdoing
    In this case, somatic mosaicism may be the culprit.
  602. interfering
    intrusive in a meddling or offensive manner
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  603. eye
    the organ of sight
    When you look at the human species, you see evidence of a process called genetic variation, that is, there are immediately recognizable differences in human traits, such as hair and eye color, skin pigment, and height.
  604. adapt
    make fit for, or change to suit a new purpose
    Mutations also provide a species with the opportunity to adapt to new environments, as well as to protect a species from new pathogens.
  605. consist
    have its essential character
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  606. form
    a perceptual structure
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  607. production
    the act or process of making something
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  608. masked
    having markings suggestive of a mask
    In women, a recessive allele on one X chromosome is often masked in their phenotype by a dominant normal allele on the other.
  609. parental
    relating to or characteristic of or befitting a parent
    Recombination involves pairing between complementary strands of two parental duplex DNAs (top and middle panel).
  610. conversion
    the act of changing from one use or function to another
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  611. nitrogen
    a common nonmetallic element that is normally a colorless odorless tasteless inert diatomic gas; constitutes 78 percent of the atmosphere by volume; a constituent of all living tissues
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  612. dogma
    a doctrine or code of beliefs accepted as authoritative
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  613. enabling
    providing legal power or sanction
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  614. bone
    rigid tissue that makes up the skeleton of vertebrates
    By birth, red blood cells are being produced, and globin is expressed in the bone marrow.
  615. therapy
    the act of providing treatment for an illness or disorder
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  616. counterpart
    a person or thing having the same function as another
    Some genes mask the expression of other genes just as a fully dominant allele masks the expression of its recessive counterpart.
  617. mustard
    pungent powder or paste prepared from ground mustard seeds
    Gene Switching: Turning Genes On and Off The estimated number of genes for humans, less than 30,000, is not so different from the 25,300 known genes of Arabidopsis thaliana, commonly called mustard grass.
  618. assign
    select something or someone for a specific purpose
    However, we still have to make guesses at the actual number of genes, because not all of the human genome sequence is annotated and not all of the known sequence has been assigned a particular position in the genome.
  619. stretch
    extend one's limbs or muscles, or the entire body
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA.
  620. modify
    cause to change; make different
    This system also precisely controls the amount of a gene product that is produced and can further modify the product after it is made.
  621. devastating
    wreaking or capable of wreaking complete destruction
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  622. reduce
    make smaller
    Thus, alternate transcripts from a single gene could reduce the chances that a mutated gene is transmitted.
  623. athlete
    a person trained to compete in sports
    The presence of Barr bodies has been used at international sport competitions as a test to determine whether an athlete is a male or a female.
  624. detection
    the perception or discovery that something has occurred
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  625. enhanced
    increased or intensified in value or beauty or quality
    It does not suggest that a mutation is derived from the environment, but that survival in that environment is enhanced by a particular mutation.
  626. only when
    never except when
    One very efficient point occurs at transcription, such that an mRNA is produced only when a gene product is needed.
  627. create
    bring into existence
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  628. separate
    standing apart; not attached to or supported by anything
    Why Is There a Separate Mitochondrial Genome?
  629. carry out
    put in effect
    Transcription Transcription, the synthesis of an RNA copy from a sequence of DNA, is carried out by an enzyme called RNA polymerase.
  630. group
    any number of entities (members) considered as a unit
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  631. discuss
    consider or examine in speech or writing
    From Genes to Proteins: Start to Finish We just discussed that the journey from DNA to mRNA to protein requires that a cell identify where a gene begins and ends.
  632. mutually
    in a shared manner
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  633. tolerate
    put up with something or somebody unpleasant
    Some genes, and even some organisms, have evolved to tolerate mutations better than others.
  634. recognition
    identifying something or someone by remembering
    Curiously, eukaryotes lack this recognition sequence and simply initiate translation at the amino acid methionine, usually coded for by the bases AUG, but sometimes GUG.
  635. acting
    the performance of a part or role in a drama
    These sequences can be cis-acting (affecting genes that are adjacent to the sequence) or trans-acting (affecting expression of the gene from a distant site), even on another chromosome.
  636. arise
    move upward
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  637. slightly
    to a small degree or extent
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  638. weaken
    lessen the strength of
    However, an individual having many genes each with small changes could weaken the individual, and thus the species.
  639. multiply
    combine by adding the same number repeatedly
    Upon fertilization, an egg cell begins to multiply to produce a ball of cells that are all the same.
  640. radiation
    the act of spreading outward from a central source
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  641. tag
    a small piece of cloth or paper
    These include: open reading frames, stretches of DNA, usually greater than 100 bases, that are not interrupted by a stop codon such as TAA, TAG or TGA; start codons such as ATG; specific sequences found at splice junctions, a location in the DNA sequence where RNA removes the non-coding areas to form a continuous gene transcript for translation into a protein; and gene regulatory sequences.
  642. survive
    continue in existence after
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  643. commonly
    under normal conditions
    This polymerase requires a sequence resembling TATAA, commonly referred to as the TATA box, which is found 25-30 nucleotides upstream of the beginning of the gene, referred to as the initiator sequence.
  644. panel
    sheet that forms a distinct section of something
    Recombination involves pairing between complementary strands of two parental duplex DNAs (top and middle panel).
  645. species
    taxonomic group whose members can interbreed
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  646. variable
    something that is likely to change
    The highly variable nature of these sequences makes them an excellent "marker" by which individuals can be identified based on their unique pattern of their satellite DNA.
  647. development
    a process in which something passes to a different stage
    In fact, at each stage of development, different globin genes are turned on and off through a process of transcriptional regulation called "switching".
  648. depicted
    represented graphically by sketch or design or lines
    Each DNA base is made up of the sugar 2'-deoxyribose linked to a phosphate group and one of the four bases depicted above: adenine (top left), cytosine (top right), guanine (bottom left), and thymine (bottom right).
  649. iris
    colored part of the eye that controls the size of the pupil
    It is speculated that there may be other genes that control other factors, such as the amount of pigment deposited in the iris.
  650. relate
    give an account of
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  651. straightforward
    pointed directly ahead
    Transferring the code from DNA to RNA is a fairly straightforward process called transcription.
  652. amazing
    inspiring awe or admiration or wonder
    Perhaps as amazing as Mendel's discoveries was the fact that his work was largely ignored by the scientific community for over 30 years!
  653. coil
    a round shape formed by a series of connected loops
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  654. advent
    arrival that has been awaited
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  655. efficient
    being effective without wasting time, effort, or expense
    One very efficient point occurs at transcription, such that an mRNA is produced only when a gene product is needed.
  656. depending on
    determined by conditions or circumstances that follow
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  657. specified
    clearly and explicitly stated
    Life is specified by genomes.
  658. continuous
    moving in time or space without interruption
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA.
  659. precisely
    in a sharply exact manner
    In this way, the ribosomal complex builds a protein one amino acid at a time, with the order of amino acids determined precisely by the order of the codons in the mRNA.
  660. identified
    having the identity known or established
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  661. folding
    the act of folding
    At other levels, cells regulate gene expression through DNA folding, chemical modification of the nucleotide bases, and intricate "feedback mechanisms" in which some of the gene's own protein product directs the cell to cease further protein production.
  662. grab
    take or seize suddenly
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  663. default
    an option that is selected automatically
    As we have just discussed, the default state for a gene is that of being expressed via the recognition of its promoter by RNA polymerase.
  664. serve
    devote one's life or efforts to, as of countries or ideas
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  665. causing
    the act of causing something to happen
    Because of the effects of an epistatic gene, some individuals who inherit the dominant, disease-causing gene show only partial symptoms of the disease.
  666. nonetheless
    despite anything to the contrary
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  667. translate
    restate from one language into another language
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  668. sophisticated
    having worldly knowledge and refinement
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  669. forty-five
    being five more than forty
    Other DNA Regions Forty to forty-five percent of our genome is made up of short sequences that are repeated, sometimes hundreds of times.
  670. developing
    of societies with low levels of industrial capability
    There are numerous forms of this "repetitive DNA", and a few have known functions, such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation.
  671. sex
    one of two categories into which most organisms are divided
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  672. intervening
    occurring between events, spaces, or points in time
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  673. beginning
    the act of starting something
    This provides a reliable indication of the beginning and end of the coding region for that gene.
  674. atom
    the smallest component of an element
    RNA has a 2' oxygen atom that is not present in DNA.
  675. hydrogen
    a colorless, odorless gas; the lightest chemical element
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  676. pass
    go across or through
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  677. reside
    live in
    Ultimately, however, the genetic code resides in DNA because only DNA is passed from generation to generation.
  678. host
    a person who invites guests to a social event
    Mutations serve the virus well by enabling adaptive traits, such as changes in the outer protein coat so that it can escape detection and thereby destruction by the host's immune system.
  679. tool
    an implement used to perform a task or job
    Yet, it is important to recognize that progress in any scientific field depends on the availability of experimental tools that allow researchers to make new scientific observations and conduct novel experiments.
  680. staggering
    so surprisingly impressive as to stun or overwhelm
    Only one of these gametes will combine with one of the nearly 17 million possible combinations from the other parent, generating a staggering potential for individual variation.
  681. accommodate
    have room for; hold without crowding
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  682. make
    perform or carry out
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  683. both
    equally or alike
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  684. for the most part
    in large part; mainly or chiefly
    For example, uracil takes the place of the thymine nucleotide found in DNA, and RNA is, for the most part, a single-stranded molecule.
  685. incorporated
    formed or united into a whole
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  686. suggest
    make a proposal; declare a plan for something
    There is even a theory, the Mitochondrial Theory of Aging, that suggests that accumulation of mutations in mitochondria contributes to, or drives, the aging process.
  687. twisting
    marked by repeated turns and bends
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  688. organize
    arrange by systematic planning and united effort
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  689. accomplish
    achieve with effort
    This reduction is accomplished through a process called meiosis, where one chromosome in a diploid pair is sent to each daughter gamete.
  690. system
    a group of independent elements comprising a unified whole
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  691. fraction
    a small part or item forming a piece of a whole
    Regulatory Sequences A class of sequences called regulatory sequences makes up a numerically insignificant fraction of the genome but provides critical functions.
  692. exception
    an instance that does not conform to a rule
    Therefore, the probability that a particular allele will be inherited is 50:50, that is, alleles randomly and independently segregate into daughter cells, although there are some exceptions to this rule.
  693. paternal
    characteristic of a father
    Methylation also plays an important role in genomic imprinting, which occurs when both maternal and paternal alleles are present but only one allele is expressed while the other remains inactive.
  694. concentrate
    make denser, stronger, or purer
    Mitochondrial DNA mutations can also concentrate in the mitochondria of specific tissues.
  695. brown
    of a color similar to that of wood or earth
    A brown/blue gene and a central brown gene are both found on chromosome 15, whereas a green/blue gene is found on chromosome 19.
  696. known
    apprehended with certainty
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  697. other
    not the same one or ones already mentioned or implied
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  698. intricate
    having many complexly arranged elements; elaborate
    At other levels, cells regulate gene expression through DNA folding, chemical modification of the nucleotide bases, and intricate "feedback mechanisms" in which some of the gene's own protein product directs the cell to cease further protein production.
  699. participate
    be involved in
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  700. find
    discover or determine the existence, presence, or fact of
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  701. studying
    reading carefully with intent to remember
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  702. remnant
    a small part remaining after the main part no longer exists
    Another class of non-coding DNA is the "pseudogene", so named because it is believed to be a remnant of a real gene that has suffered mutations and is no longer functional.
  703. surround
    extend on all sides of simultaneously; encircle
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  704. signal
    any action or gesture that encodes a message
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  705. study
    applying the mind to learning and understanding a subject
    Why Study Mitochondria?
  706. mathematical
    of or pertaining to or of the nature of mathematics
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  707. active
    characterized by energetic movement
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  708. intrigue
    a crafty and involved plot to achieve your ends
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  709. female
    of the sex that produces eggs from which offspring develop
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  710. termination
    the act of ending something
    Transcription terminates when the polymerase stumbles upon a termination, or stop signal.
  711. trigger
    lever that activates the firing mechanism of a gun
    Fertilization then serves to trigger mechanisms that initiate the efficient translation of mRNA into proteins.
  712. terminated
    having come or been brought to a conclusion
    Translation is terminated for both prokaryotes and eukaryotes when the ribosome reaches one of the three stop codons.
  713. potentially
    with a possibility of becoming actual
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  714. frame
    the internal structure that gives an artifact its shape
    These include: open reading frames, stretches of DNA, usually greater than 100 bases, that are not interrupted by a stop codon such as TAA, TAG or TGA; start codons such as ATG; specific sequences found at splice junctions, a location in the DNA sequence where RNA removes the non-coding areas to form a continuous gene transcript for translation into a protein; and gene regulatory sequences.
  715. Danish
    a Scandinavian language that is the official language of Denmark
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  716. comparing
    the act of examining resemblances
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  717. category
    a general concept that marks divisions or coordinations
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  718. paste
    an adhesive made from water and flour or starch
    Alternative splicing refers to the cutting and pasting of the primary mRNA transcript into various combinations of mature mRNA.
  719. number
    a concept of quantity involving zero and units
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  720. typically
    in a manner conforming to a type
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  721. appropriate
    suitable for a particular person, place, or situation
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  722. approximately
    imprecise but fairly close to correct
    However, of the approximately 1 percent of our genome that is expressed, 40 percent is alternatively spliced to produce multiple proteins from a single gene.
  723. formation
    the act of establishing or creating something
    Meiosis is the mode of cell replication for the formation of sperm and egg cells in plants, animals, and many other multicellular life forms.
  724. demonstrate
    give an exhibition of to an interested audience
    If every individual carrying a dominant mutant gene demonstrates the mutant phenotype, the gene is said to show complete penetrance.
  725. indicate
    designate a place, direction, person, or thing
    The problem is the lack of a single sequence pattern that indicates the beginning or end of a eukaryotic gene.
  726. infection
    the invasion of the body by pathogenic microorganisms
    Viruses also produce certain enzymes that are necessary for infection of a host cell.
  727. propose
    present for consideration, examination, or criticism
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  728. toe
    one of the digits of the foot
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  729. masculine
    associated with men and not with women
    There are at least a dozen Y-linked genes, in addition to those that code for masculine physical traits.
  730. tend
    have a disposition to do or be something; be inclined
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  731. concept
    an abstract or general idea inferred from specific instances
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  732. apparent
    clearly revealed to the mind or the senses or judgment
    A codominant allele is apparent even if only one is present; a recessive allele is apparent only if two recessive alleles are present.
  733. particular
    unique or specific to a person or thing or category
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  734. needed
    necessary for relief or supply
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  735. experimental
    of the nature of or undergoing a trial
    Yet, it is important to recognize that progress in any scientific field depends on the availability of experimental tools that allow researchers to make new scientific observations and conduct novel experiments.
  736. tiny
    very small
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  737. exist
    have a presence
    Other fundamental structural differences exist.
  738. Marshall
    United States actor (1914-1998)
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  739. activity
    any specific behavior
    In most cases, the polymerase is aided by a group of proteins called "transcription factors" that perform specialized functions, such as DNA sequence recognition and regulation of the polymerase's enzyme activity.
  740. appear
    come into sight or view
    For prokaryotes, the ribosome recognizes and attaches at the sequence AGGAGGU on the mRNA, called the Shine-Delgarno sequence, that appears just upstream from the methionine (AUG) codon.
  741. specifically
    in distinction from others
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  742. shape
    a perceptual structure
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  743. technique
    a practical method or art applied to some particular task
    Today, molecular genetic techniques exist that can assist researchers in tracking the transmission of traits by pinpointing the location of individual genes, identifying allelic variants, and identifying those traits that are caused by multiple genes.
  744. beneficial
    promoting or enhancing well-being
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  745. take away
    remove something concrete, as by lifting, pushing, or taking off, or remove something abstract
    However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria.
  746. double
    consisting of or involving two parts or components usually in pairs
    The DNA that constitutes a gene is a double-stranded molecule consisting of two chains running in opposite directions.
  747. relationship
    a mutual connection between people
    The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity.
  748. analysis
    abstract separation of something into its various parts
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  749. define
    show the form or outline of
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  750. dependent on
    determined by conditions or circumstances that follow
    This process is dependent on computer programs that search for these patterns in various sequence databases and then make predictions about the existence of a gene.
  751. primary
    of first rank or importance or value
    Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  752. dose
    a measured portion of medicine taken at any one time
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  753. editing
    putting something into acceptable form
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  754. scientific
    consistent with systematic study of the physical world
    Perhaps as amazing as Mendel's discoveries was the fact that his work was largely ignored by the scientific community for over 30 years!
  755. can
    airtight sealed metal container for food or drink, etc.
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  756. ignore
    refuse to acknowledge
    Perhaps as amazing as Mendel's discoveries was the fact that his work was largely ignored by the scientific community for over 30 years!
  757. one
    smallest whole number or a numeral representing this number
    Each DNA base is made up of the sugar 2'-deoxyribose linked to a phosphate group and one of the four bases depicted above: adenine (top left), cytosine (top right), guanine (bottom left), and thymine (bottom right).
  758. composed
    serenely self-possessed and free from agitation
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  759. accumulated
    periodically gathered over time
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  760. restricted
    subject to an act of limitation
    Our discussion here is restricted to sexually reproducing organisms where each gene in an individual is represented by two copies, called alleles-one on each chromosome pair.
  761. however
    in whatever way or manner
    However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria.
  762. connect
    fasten or put together two or more pieces
    The two strands are connected to each other by chemical pairing of each base on one strand to a specific partner on the other strand.
  763. also
    in addition
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  764. new
    not of long duration
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  765. junction
    an act of joining or adjoining things
    These include: open reading frames, stretches of DNA, usually greater than 100 bases, that are not interrupted by a stop codon such as TAA, TAG or TGA; start codons such as ATG; specific sequences found at splice junctions, a location in the DNA sequence where RNA removes the non-coding areas to form a continuous gene transcript for translation into a protein; and gene regulatory sequences.
  766. strait
    a narrow channel joining two larger bodies of water
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  767. one-third
    one of three equal parts of a divisible whole
    Both studies estimated that there are 30,000 to 40,000 genes in the human genome, roughly one-third the number of previous estimates.
  768. lie in
    originate (in)
    One answer lies in the regulatory system that turns genes on and off.
  769. adjacent
    having a common boundary or edge
    These sequences can be cis-acting (affecting genes that are adjacent to the sequence) or trans-acting (affecting expression of the gene from a distant site), even on another chromosome.
  770. South America
    a continent in the western hemisphere connected to North America by the Isthmus of Panama
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  771. research
    a seeking for knowledge
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  772. sugar
    a white crystalline carbohydrate used as a sweetener
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  773. effect
    a phenomenon that is caused by some previous phenomenon
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  774. two
    the cardinal number that is the sum of one and one
    The DNA that constitutes a gene is a double-stranded molecule consisting of two chains running in opposite directions.
  775. variety
    a category of things distinguished by a common quality
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  776. significantly
    in an important manner
    Meiosis differs significantly from mitosis in that the cellular progeny have their complement of genetic material reduced to half that of the parent cell.
  777. sanctuary
    a consecrated place where sacred objects are kept
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  778. enable
    provide the means to perform some task
    This theory proposes that as new environments arise, individuals carrying certain mutations that enable an evolutionary advantage will survive to pass this mutation on to its offspring.
  779. perspective
    a way of regarding situations or topics
    From One Gene-One Protein to a More Global Perspective Only a small percentage of the 3 billion bases in the human genome becomes an expressed gene product.
  780. thereby
    by that means or because of that
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  781. blocked
    completely obstructed or closed off
    A mutation within such an enzyme may result in a new form that still allows the virus to infect its host but that is no longer blocked by an anti-viral drug.
  782. subordinate
    an assistant subject to the authority or control of another
    A gene that masks the phenotypic effect of another gene is called an epistatic gene; the gene it subordinates is the hypostatic gene.
  783. combine
    put or add together
    Only one of these gametes will combine with one of the nearly 17 million possible combinations from the other parent, generating a staggering potential for individual variation.
  784. trivial
    (informal) small and of little importance
    Studying garden peas might seem trivial to those of us who live in a modern world of cloned sheep and gene transfer, but Mendel's simple approach led to fundamental insights into genetic inheritance, known today as Mendel's Laws.
  785. have
    possess, either in a concrete or an abstract sense
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  786. limit
    as far as something can go
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  787. composition
    the way in which someone or something is put together
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  788. insignificant
    conveying nothing
    Regulatory Sequences A class of sequences called regulatory sequences makes up a numerically insignificant fraction of the genome but provides critical functions.
  789. experiment
    the act of conducting a controlled test or investigation
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  790. derived
    formed or developed from something else; not original
    It does not suggest that a mutation is derived from the environment, but that survival in that environment is enhanced by a particular mutation.
  791. effects
    property of a personal character that is portable
    This process may have evolved as a way to limit the deleterious effects of mutations.
  792. may
    thorny shrub of a small tree having white to scarlet flowers
    Pseudogenes may have arisen through the duplication of a functional gene, followed by inactivation of one of the copies.
  793. found
    set up
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  794. lack
    the state of needing something that is absent or unavailable
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  795. deposit
    the act of putting something somewhere
    It is speculated that there may be other genes that control other factors, such as the amount of pigment deposited in the iris.
  796. percent
    a proportion in relation to a whole
    The Core Gene Sequence: Introns and Exons Genes make up about 1 percent of the total DNA in our genome.
  797. correctly
    in an accurate manner
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  798. become
    come into existence
    Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit.
  799. turn
    move around an axis or a center
    For example, certain sequences indicate the beginning and end of genes, sites for initiating replication and recombination, or provide landing sites for proteins that turn genes on and off.
  800. particularly
    to a distinctly greater extent or degree than is common
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  801. perform
    get done
    They perform such functions as transporting nutrients into the cell; synthesizing new DNA, RNA, and protein molecules; and transmitting chemical signals from outside to inside the cell, as well as throughout the cell-both critical to the process of making proteins.
  802. bounded
    having the limits or boundaries established
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  803. indication
    the act of pointing out by name
    This provides a reliable indication of the beginning and end of the coding region for that gene.
  804. convert
    change the nature, purpose, or function of something
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  805. publish
    prepare and issue for public distribution or sale
    In February 2001, two largely independent draft versions of the human genome were published.
  806. twist
    cause an object to assume a curved or distorted shape
    The chemical nature of the bases in double-stranded DNA creates a slight twisting force that gives DNA its characteristic gently coiled structure, known as the double helix.
  807. feature
    a prominent attribute or aspect of something
    This editing process removes the introns, joins the exons together, and adds unique features to each end of the transcript to make a "mature" mRNA.
  808. difference
    the quality of being unlike or dissimilar
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  809. framed
    provided with a frame
    Therefore the one gene-one protein theory, originally framed as "one gene-one enzyme", does not precisely hold.
  810. regardless
    in spite of everything
    Rather, its dominant allele is necessary for the development of any skin pigment, and its recessive homozygous state results in the albino condition, regardless of how many other pigment genes may be present.
  811. vary
    become different in some particular way
    The location and base sequence of each promoter site vary for prokaryotes (bacteria) and eukaryotes (higher organisms), but they are both recognized by RNA polymerase, which can then grab hold of the sequence and drive the production of an mRNA.
  812. represent
    be a delegate or spokesperson for
    Our discussion here is restricted to sexually reproducing organisms where each gene in an individual is represented by two copies, called alleles-one on each chromosome pair.
  813. treatment
    the management of someone or something
    Although there is no known cure for the thalassemias, there are medical treatments that have been developed based on our current understanding of both gene regulation and cell differentiation.
  814. absence
    the state of being not present
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  815. based
    having a base
    The highly variable nature of these sequences makes them an excellent "marker" by which individuals can be identified based on their unique pattern of their satellite DNA.
  816. primarily
    for the most part
    X-linked traits not related to feminine body characteristics are primarily expressed in the phenotype of men.
  817. repeat
    say or state again
    Other DNA Regions Forty to forty-five percent of our genome is made up of short sequences that are repeated, sometimes hundreds of times.
  818. resemble
    be similar or bear a likeness to
    This polymerase requires a sequence resembling TATAA, commonly referred to as the TATA box, which is found 25-30 nucleotides upstream of the beginning of the gene, referred to as the initiator sequence.
  819. plant
    a living organism without the power to move
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  820. condition
    a mode of being or form of existence of a person or thing
    Expression of Inherited Genes Gene expression, as reflected in an organism's phenotype, is based on conditions specific for each copy of a gene.
  821. significant
    rich in implication
    Although they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division.
  822. stage
    any distinct time period in a sequence of events
    In fact, at each stage of development, different globin genes are turned on and off through a process of transcriptional regulation called "switching".
  823. describe
    give a statement representing something
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  824. improving
    getting higher or more vigorous
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  825. cause
    events that provide the generative force of something
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  826. mode
    how something is done or how it happens
    Meiosis is the mode of cell replication for the formation of sperm and egg cells in plants, animals, and many other multicellular life forms.
  827. carbon
    an abundant nonmetallic element in all organic compounds
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  828. highly
    to a great degree or extent; favorably or with much respect
    The most highly repeated sequences found so far in mammals are called "satellite DNA" because their unusual composition allows them to be easily separated from other DNA.
  829. laboratory
    a workplace for the conduct of scientific research
    The last section of the genetic primer concludes with a discussion of some of the laboratory tools and technologies that allow researchers to study cells and their DNA.
  830. preservation
    the activity of protecting something from loss or danger
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  831. Darwin
    English natural scientist who formulated a theory of evolution by natural selection (1809-1882)
    Mutations are what lie behind the popular saying of "survival of the fittest", the basic theory of evolution proposed by Charles Darwin in 1859.
  832. therefore
    as a result; from that fact or reason
    Therefore, amoeba must always have a symbiotic relationship with an aerobic bacterium.
  833. insight
    clear or deep perception of a situation
    Studying garden peas might seem trivial to those of us who live in a modern world of cloned sheep and gene transfer, but Mendel's simple approach led to fundamental insights into genetic inheritance, known today as Mendel's Laws.
  834. turn out
    be shown or be found to be
    Usually, they turn out to represent complex interactions among various allelic conditions.
  835. muscle
    animal tissue consisting predominantly of contractile cells
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  836. explain
    make plain and comprehensible
    This explains why women are frequently carriers of X-linked traits but more rarely have them expressed in their own phenotypes.
  837. various
    having great diversity or variety
    This process is dependent on computer programs that search for these patterns in various sequence databases and then make predictions about the existence of a gene.
  838. state
    the way something is with respect to its main attributes
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  839. ignored
    disregarded
    Perhaps as amazing as Mendel's discoveries was the fact that his work was largely ignored by the scientific community for over 30 years!
  840. remove
    take something away as by lifting, pushing, or taking off
    This editing process removes the introns, joins the exons together, and adds unique features to each end of the transcript to make a "mature" mRNA.
  841. aided
    having help; often used as a combining form
    In most cases, the polymerase is aided by a group of proteins called "transcription factors" that perform specialized functions, such as DNA sequence recognition and regulation of the polymerase's enzyme activity.
  842. seal
    fastener consisting of a resin that is plastic when warm
    Telomeres are the structures that seal the end of a chromosome.
  843. error
    a wrong action attributable to bad judgment or ignorance
    For example, as your skin cells prepare to divide and produce new skin cells, errors may be inadvertently introduced when the DNA is duplicated, resulting in a daughter cell that contains the error.
  844. end
    either extremity of something that has length
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  845. same
    same in identity
    Just like DNA, ribonucleic acid (RNA) is a chain, or polymer, of nucleotides with the same 5' to 3' direction of its strands.
  846. outcome
    something that results
    If the child is BB or BO, they have blood type B. If the child is OO, he or she will have blood type O. Pleiotropism, or pleotrophy, refers to the phenomenon in which a single gene is responsible for producing multiple, distinct, and apparently unrelated phenotypic traits, that is, an individual can exhibit many different phenotypic outcomes.
  847. complete
    having all necessary qualities
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  848. add
    join or combine or unite with others
    Some codons do not code for an amino acid at all but instruct the ribosome when to stop adding new amino acids.
  849. maintenance
    activity involved in keeping something in good working order
    Telomeres play a critical role in chromosome replication and maintenance by counteracting the tendency of the chromosome to otherwise shorten with each round of replication.
  850. usually
    under normal conditions
    These redundant codons usually differ at the third position.
  851. constitute
    form or compose
    The DNA that constitutes a gene is a double-stranded molecule consisting of two chains running in opposite directions.
  852. boundary
    the line indicating the limit or extent of something
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  853. reduction
    the act of decreasing something
    This reduction is accomplished through a process called meiosis, where one chromosome in a diploid pair is sent to each daughter gamete.
  854. lie
    be prostrate; be in a horizontal position
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  855. ensure
    make certain of
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  856. achieve
    gain with effort
    A person may wonder how this increased complexity is achieved.
  857. compact
    closely and firmly united or packed together
    The inactivated X chromosomes become highly compacted structures known as Barr bodies.
  858. portion
    something determined in relation to a thing that includes it
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  859. edited
    improved or corrected by critical revision
    Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  860. lifetime
    the period during which something is functional
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  861. identical
    being the exact same one
    On the other hand, a recessive allele will be expressed only if there are two identical copies of that allele, or for a male, if one copy is present on the X chromosome.
  862. act as
    function as or act like
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  863. all the same
    despite anything to the contrary
    Upon fertilization, an egg cell begins to multiply to produce a ball of cells that are all the same.
  864. only
    without any others being included or involved
    Unlike nuclear DNA (the DNA found within the nucleus of a cell), half of which comes from our mother and half from our father, mitochondrial DNA is only inherited from our mother.
  865. phase
    any distinct time period in a sequence of events
    Most genetic variation occurs during the phases of the cell cycle when DNA is duplicated.
  866. class
    a collection of things sharing a common attribute
    Eukaryotic cells have three different RNA polymerases, each recognizing three classes of genes.
  867. novel
    an extended fictional work in prose
    It is still unclear what all the functions of introns are, but scientists believe that some serve as the site for recombination, the process by which progeny derive a combination of genes different from that of either parent, resulting in novel genes with new combinations of exons, the key to evolution.
  868. tail
    the posterior part of the body of a vertebrate especially when elongated and extending beyond the trunk or main part of the body
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  869. consistent
    the same throughout in structure or composition
    Fortunately, the middle of a gene, referred to as the core gene sequence--has enough consistent features to allow more reliable predictions.
  870. need
    require or want
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  871. distinct
    constituting a separate entity or part
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  872. exposure
    the state of being exposed to harm
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  873. alike
    having the same or similar characteristics
    When all of the cells formed are alike, the same genes are turned on.
  874. phenomenon
    any state or process known through the senses
    If the child is BB or BO, they have blood type B. If the child is OO, he or she will have blood type O. Pleiotropism, or pleotrophy, refers to the phenomenon in which a single gene is responsible for producing multiple, distinct, and apparently unrelated phenotypic traits, that is, an individual can exhibit many different phenotypic outcomes.
  875. use
    put into service
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  876. partial
    being or affecting only a segment
    Because of the effects of an epistatic gene, some individuals who inherit the dominant, disease-causing gene show only partial symptoms of the disease.
  877. domain
    a particular environment or walk of life
    The Influence of DNA Structure and Binding Domains Sequences that are important in regulating transcription do not necessarily code for transcription factors or other proteins.
  878. block
    obstruct
    Here the mRNA is translated into protein by decoding the mRNA sequence in blocks of three RNA bases, called codons, where each codon specifies a particular amino acid.
  879. faithfully
    in a faithful manner
    Yet, in the process of making a protein, the encoded information must be faithfully transmitted first to RNA then to protein.
  880. direction
    a line leading to a place or point
    A DNA chain, also called a strand, has a sense of direction, in which one end is chemically different than the other.
  881. percentage
    a proportion in relation to a whole
    From One Gene-One Protein to a More Global Perspective Only a small percentage of the 3 billion bases in the human genome becomes an expressed gene product.
  882. coin
    a flat metal piece (usually a disc) used as money
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  883. replace
    put something back where it belongs
    Mutations in the new DNA strand can manifest as base substitutions, such as when a single base gets replaced with another; deletions, where one or more bases are left out; or insertions, where one or more bases are added.
  884. prevent
    keep from happening or arising; make impossible
    Repressor proteins prevent a gene from being expressed.
  885. precise
    sharply exact or accurate or delimited
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  886. discussion
    an extended communication dealing with a particular topic
    Our discussion here is restricted to sexually reproducing organisms where each gene in an individual is represented by two copies, called alleles-one on each chromosome pair.
  887. feminine
    associated with women and not with men
    X-linked traits not related to feminine body characteristics are primarily expressed in the phenotype of men.
  888. solely
    without any others being included or involved
    Determining the allelic condition used to be accomplished solely through the analysis of pedigrees, much the way Mendel carried out his experiments on peas.
  889. accomplished
    highly skilled
    This reduction is accomplished through a process called meiosis, where one chromosome in a diploid pair is sent to each daughter gamete.
  890. software
    written programs operating on a computer system
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  891. bottom
    the lower side of anything
    Each DNA base is made up of the sugar 2'-deoxyribose linked to a phosphate group and one of the four bases depicted above: adenine (top left), cytosine (top right), guanine (bottom left), and thymine (bottom right).
  892. throughout
    from first to last
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  893. stop
    have an end, in a temporal, spatial, or quantitative sense
    Some codons do not code for an amino acid at all but instruct the ribosome when to stop adding new amino acids.
  894. vicinity
    a surrounding or nearby region
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  895. related to
    being connected either logically or causally or by shared characteristics
    X-linked traits not related to feminine body characteristics are primarily expressed in the phenotype of men.
  896. many
    a large number of the persons or things being discussed
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  897. lined
    having a lining or a liner; often used in combination
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  898. important
    significant in effect or meaning
    This is important because DNA strands are always synthesized in the 5' to 3' direction.
  899. interrupted
    discontinued temporarily
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  900. body
    an individual 3-dimensional object that has mass
    Each cell contains thousands of different proteins: enzymes that make new molecules and catalyze nearly all chemical processes in cells; structural components that give cells their shape and help them move; hormones that transmit signals throughout the body; antibodies that recognize foreign molecules; and transport molecules that carry oxygen.
  901. reduced
    made less in size or amount or degree
    Meiosis differs significantly from mitosis in that the cellular progeny have their complement of genetic material reduced to half that of the parent cell.
  902. key
    metal device that allows a lock's mechanism to be rotated
    This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  903. once again
    anew
    Once again, the sperm or egg will contain the mutation, and during the reproductive process, this mutation may then be passed on to the offspring.
  904. on the other hand
    (contrastive) from another point of view
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  905. swimming
    the act of swimming
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  906. related
    connected logically or causally or by shared characteristics
    In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation.
  907. eggs
    oval reproductive body of a fowl used as food
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  908. acquire
    come into the possession of something concrete or abstract
    This does not mean, however, that somatic cell mutations, sometimes called acquired mutations, are benign.
  909. swim
    travel through water
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  910. disorder
    a condition in which things are not in their expected places
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  911. animal
    a living organism characterized by voluntary movement
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  912. attract
    exert a force on
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  913. appreciation
    understanding of the nature or meaning of something
    Therefore, an understanding of DNA, gene structure, and function is fundamental for an appreciation of the molecular biology of the cell.
  914. in on
    participating in or knowledgeable out
    Prokaryotes, however, tend to have a short region composed of G's and C's that is able to fold in on itself and form complementary base pairs, creating a stem in the new mRNA.
  915. defined
    showing clearly the outline or profile or boundary
    There are alpha and beta thalassemias, defined by the defective gene, and there are variations of each of these, depending on whether the embryonic, fetal, or adult forms are affected and/or expressed.
  916. largely
    mainly or chiefly
    In February 2001, two largely independent draft versions of the human genome were published.
  917. More
    English statesman who opposed Henry VIII's divorce from Catherine of Aragon and was imprisoned and beheaded; recalled for his concept of Utopia, the ideal state
    More recently scientists estimated that there are less than 30,000 human genes.
  918. shift
    move very slightly
    Mutations can also cause a frame shift, which occurs when the variation bumps the reference point for reading the genetic code down a base or two and results in loss of part, or sometimes all, of that gene product.
  919. conclude
    bring to a close
    The last section of the genetic primer concludes with a discussion of some of the laboratory tools and technologies that allow researchers to study cells and their DNA.
  920. behavior
    the way a person acts toward other people
    Nonetheless, he correctly surmised the behavior of traits and the mathematical predictions of their transmission, the independent segregation of alleles during gamete production, and the independent assortment of genes.
  921. such
    of so extreme a degree or extent
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  922. probability
    a measure of how likely it is that some event will occur
    Therefore, the probability that a particular allele will be inherited is 50:50, that is, alleles randomly and independently segregate into daughter cells, although there are some exceptions to this rule.
  923. bulk
    the property possessed by a large mass
    Francis Crick Although DNA is the carrier of genetic information in a cell, proteins do the bulk of the work.
  924. used to
    in the habit
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  925. inside
    relating to or being on the side closer to the center or within a defined space
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  926. controlled
    restrained or managed or kept within certain bounds
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  927. nerve
    a bundle of fibers running to organs and tissues of the body
    Some will become blood cells or kidney cells, whereas others may become nerve or brain cells.
  928. repair
    fix by putting together what is torn or broken
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  929. possible
    capable of happening or existing
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  930. alternative
    one of a number of things from which only one can be chosen
    Alternative splicing refers to the cutting and pasting of the primary mRNA transcript into various combinations of mature mRNA.
  931. know
    be cognizant or aware of a fact or a piece of information
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  932. understand
    know and comprehend the nature or meaning of
    In eukaryotes, this process is not fully understood.
  933. green
    of the color between blue and yellow in the color spectrum
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  934. section
    one of several parts or pieces that fit with others
    Even more variation is possible when you consider the recombination between sections of chromosomes during meiosis as well as the random mutation that can occur during DNA replication.
  935. draft
    a current of air
    In February 2001, two largely independent draft versions of the human genome were published.
  936. assembly
    a group of persons gathered together for a common purpose
    Ribonucleic Acids In addition to mRNA, DNA codes for other forms of RNA, including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), and small nuclear RNAs (snRNAs). rRNAs and tRNAs participate in protein assembly whereas snRNAs aid in a process called splicing -the process of editing of mRNA before it can be used as a template for protein synthesis.
  937. subsequently
    happening at a time later than another time
    Subsequently, genes on that chromosome that do not code for gender are expressed in the male phenotype, even if they are recessive.
  938. blown
    being moved or acted upon by moving air or vapor
    The individual in whom such a nonpenetrant mutant gene exists will be phenotypically normal but still capable of passing the deleterious gene on to offspring, who may exhibit the full-blown disease.
  939. red
    the chromatic color resembling the hue of blood
    Hemoglobin transports oxygen to our tissues via red blood cells.
  940. today
    on this day as distinct from yesterday or tomorrow
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  941. act
    behave in a certain manner
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  942. separation
    the act of dividing or disconnecting
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  943. change
    become different in some particular way
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  944. actual
    existing in fact
    However, we still have to make guesses at the actual number of genes, because not all of the human genome sequence is annotated and not all of the known sequence has been assigned a particular position in the genome.
  945. present
    happening or existing now
    RNA has a 2' oxygen atom that is not present in DNA.
  946. reflect
    throw or bend back from a surface
    Expression of Inherited Genes Gene expression, as reflected in an organism's phenotype, is based on conditions specific for each copy of a gene.
  947. determined
    having been learned or found especially by investigation
    In this way, the ribosomal complex builds a protein one amino acid at a time, with the order of amino acids determined precisely by the order of the codons in the mRNA.
  948. shine
    emit light; be bright, as of the sun or a light
    For prokaryotes, the ribosome recognizes and attaches at the sequence AGGAGGU on the mRNA, called the Shine-Delgarno sequence, that appears just upstream from the methionine (AUG) codon.
  949. dependent
    a person who relies on another person for support
    This process is dependent on computer programs that search for these patterns in various sequence databases and then make predictions about the existence of a gene.
  950. forty
    the cardinal number that is the product of ten and four
    Other DNA Regions Forty to forty-five percent of our genome is made up of short sequences that are repeated, sometimes hundreds of times.
  951. ultimate
    furthest or highest in degree or order; utmost or extreme
    By allowing some of the random changes in DNA to have no effect on the ultimate protein sequence, a sort of genetic safety net is created.
  952. used
    previously owned by another
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  953. continuing
    remaining in force or being carried on without letup
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  954. build
    make by combining materials and parts
    Every organism, including humans, has a genome that contains all of the biological information needed to build and maintain a living example of that organism.
  955. manifest
    clearly revealed to the mind or the senses or judgment
    Mutations in the new DNA strand can manifest as base substitutions, such as when a single base gets replaced with another; deletions, where one or more bases are left out; or insertions, where one or more bases are added.
  956. test
    standardized procedure for measuring sensitivity or aptitude
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  957. play
    engage in recreational activities rather than work
    Although they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division.
  958. interfere
    get involved, so as to alter or hinder an action
    This is because the methyl group serves to inhibit transcription by attracting a protein that binds specifically to methylated DNA, thereby interfering with polymerase binding.
  959. status
    the condition or someone or something at a particular time
    The methylation status of DNA often correlates with its functional activity, where inactive genes tend to be more heavily methylated.
  960. organ
    a structure in an animal specialized for some function
    Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  961. understanding
    the condition of someone who knows and comprehends
    Although there is no known cure for the thalassemias, there are medical treatments that have been developed based on our current understanding of both gene regulation and cell differentiation.
  962. roughly
    with rough motion as over a rough surface
    Both studies estimated that there are 30,000 to 40,000 genes in the human genome, roughly one-third the number of previous estimates.
  963. subtle
    difficult to detect or grasp by the mind or analyze
    Transcription can also be regulated by subtle variations in DNA structure and by chemical changes in the bases to which transcription factors bind.
  964. curiously
    in a manner differing from the usual or expected
    Curiously, eukaryotes lack this recognition sequence and simply initiate translation at the amino acid methionine, usually coded for by the bases AUG, but sometimes GUG.
  965. target
    a reference point to shoot at
    Close to the promoter region is another cis-acting site called the operator, the target for the repressor protein.
  966. division
    the act of partitioning
    Although they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division.
  967. program
    a series of steps to be carried out
    Gene Prediction Using Computers When the complete mRNA sequence for a gene is known, computer programs are used to align the mRNA sequence with the appropriate region of the genomic DNA sequence.
  968. totally
    to a complete degree or to the full or entire extent
    Because the chromosome in one pair separates independently of all other chromosomes, each new gamete has the potential for a totally new combination of chromosomes.
  969. several
    of an indefinite number more than 2 or 3 but not many
    On the other hand, if a single mutation affects several alternate transcripts at once, it is more likely that the effect will be devastating-the individual may not survive to contribute to the next generation.
  970. newly
    very recently
    This stem then causes the polymerase to trip and release the nascent, or newly formed, mRNA.
  971. reaction
    an idea evoked by some experience
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  972. store
    a mercantile establishment for the sale of goods or services
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  973. there
    in or at that place
    Mitochondrial DNA also does not recombine; there is no shuffling of genes from one generation to the other, as there is with nuclear genes.
  974. some
    quantifier
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  975. thus
    from that fact or reason or as a result
    Thus, A-T and G-C base pairs are said to be complementary.
  976. daughter
    a female human offspring
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  977. well-known
    widely or fully known
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  978. line
    a length between two points
    Each chromosome has the embryonic, fetal, and adult form lined up on the chromosome in a sequential order for developmental expression.
  979. as well
    in addition
    They perform such functions as transporting nutrients into the cell; synthesizing new DNA, RNA, and protein molecules; and transmitting chemical signals from outside to inside the cell, as well as throughout the cell-both critical to the process of making proteins.
  980. assigned
    appointed to a post or duty
    However, we still have to make guesses at the actual number of genes, because not all of the human genome sequence is annotated and not all of the known sequence has been assigned a particular position in the genome.
  981. method
    a way of doing something, especially a systematic way
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  982. exquisite
    delicately beautiful
    This exquisite control requires multiple regulatory input points.
  983. area
    the extent of a two-dimensional surface within a boundary
    These include: open reading frames, stretches of DNA, usually greater than 100 bases, that are not interrupted by a stop codon such as TAA, TAG or TGA; start codons such as ATG; specific sequences found at splice junctions, a location in the DNA sequence where RNA removes the non-coding areas to form a continuous gene transcript for translation into a protein; and gene regulatory sequences.
  984. order
    logical arrangement of different elements
    Individual nucleotides are linked through the phosphate group, and it is the precise order, or sequence, of nucleotides that determines the product made from that gene.
  985. fortunately
    by good fortune
    Fortunately, the middle of a gene, referred to as the core gene sequence--has enough consistent features to allow more reliable predictions.
  986. often
    many times at short intervals
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  987. so-called
    doubtful or suspect
    The so-called 5' end terminates in a 5' phosphate group (-PO4); the 3' end terminates in a 3' hydroxyl group (-OH).
  988. brain
    the organ that is the center of the nervous system
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  989. principle
    a basic generalization that is accepted as true
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  990. colors
    a distinguishing emblem
    This could produce eyes of two different colors.
  991. physical
    involving the body as distinguished from the mind or spirit
    The Physical Structure of the Human Genome Nuclear DNA Inside each of our cells lies a nucleus, a membrane-bounded region that provides a sanctuary for genetic information.
  992. look for
    try to locate or discover, or try to establish the existence of
    For the most part, they look for tell-tale signs of genes in a DNA sequence.
  993. presence
    current existence
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  994. reading
    written material intended to be read
    These include: open reading frames, stretches of DNA, usually greater than 100 bases, that are not interrupted by a stop codon such as TAA, TAG or TGA; start codons such as ATG; specific sequences found at splice junctions, a location in the DNA sequence where RNA removes the non-coding areas to form a continuous gene transcript for translation into a protein; and gene regulatory sequences.
  995. improve
    to make better
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  996. lead
    take somebody somewhere
    Thalassemias are a group of diseases characterized by the absence or decreased production of normal globin, and thus hemoglobin, leading to decreased oxygen in the system.
  997. influence
    a power to affect persons or events
    The Influence of DNA Structure and Binding Domains Sequences that are important in regulating transcription do not necessarily code for transcription factors or other proteins.
  998. messenger
    a person who carries a communication to a recipient
    For example, all genes that code for proteins are first made into an RNA strand in the nucleus called a messenger RNA (mRNA).
  999. namely
    as follows
    This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule.
  1000. frequently
    many times at short intervals
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  1001. at a time
    simultaneously
    In this way, the ribosomal complex builds a protein one amino acid at a time, with the order of amino acids determined precisely by the order of the codons in the mRNA.
  1002. center
    an area that is in the middle of some larger region
    These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  1003. lots
    a large number or amount
    Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  1004. instruction
    activities that impart knowledge or skill
    Today we know that a single gene consists of a unique sequence of DNA that provides the complete instructions to make a functional product, called a protein.
  1005. machinery
    mechanical or electrical devices collectively
    The mRNA carries the information encoded in DNA out of the nucleus to the protein assembly machinery, called the ribosome, in the cytoplasm.
  1006. be on
    appear in a show, on T.V. or radio
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  1007. cease
    put an end to a state or an activity
    At other levels, cells regulate gene expression through DNA folding, chemical modification of the nucleotide bases, and intricate "feedback mechanisms" in which some of the gene's own protein product directs the cell to cease further protein production.
  1008. assist
    give help; be of service
    Today, molecular genetic techniques exist that can assist researchers in tracking the transmission of traits by pinpointing the location of individual genes, identifying allelic variants, and identifying those traits that are caused by multiple genes.
  1009. deadly
    causing or capable of causing death
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  1010. suitable
    meant or adapted for an occasion or use
    This complementary base pairing is what makes DNA a suitable molecule for carrying our genetic information-one strand of DNA can act as a template to direct the synthesis of a complementary strand.
  1011. compare
    examine and note the similarities or differences of
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  1012. organized
    methodical and efficient in arrangement or function
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  1013. drive
    operate or control a vehicle
    There is even a theory, the Mitochondrial Theory of Aging, that suggests that accumulation of mutations in mitochondria contributes to, or drives, the aging process.
  1014. cure
    a medicine or therapy that treats disease or relieves pain
    Although there is no known cure for the thalassemias, there are medical treatments that have been developed based on our current understanding of both gene regulation and cell differentiation.
  1015. material
    the substance that goes into the makeup of a physical object
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  1016. horizon
    the line at which the sky and Earth appear to meet
    With continuing research in the areas of gene regulation and cell differentiation, new and more effective treatments may soon be on the horizon, such as the advent of gene transfer therapies.
  1017. central
    in or near an inner area
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  1018. at least
    not less than
    Yet, we appear, at least at first glance, to be a far more complex organism.
  1019. say
    utter aloud
    Thus, A-T and G-C base pairs are said to be complementary.
  1020. in this
    (formal) in or into that thing or place
    In this way, the information in a DNA sequence is readily copied and passed on to the next generation of cells.
  1021. reflected
    (especially of incident sound or light) bent or sent back
    Expression of Inherited Genes Gene expression, as reflected in an organism's phenotype, is based on conditions specific for each copy of a gene.
  1022. distribution
    the act of spreading or apportioning
    The centromere, shown at the center of this chromosome, is a specialized structure that appears during cell division and ensures the correct distribution of duplicated chromosomes to daughter cells.
  1023. repeated
    recurring again and again
    Other DNA Regions Forty to forty-five percent of our genome is made up of short sequences that are repeated, sometimes hundreds of times.
  1024. blue
    of the color intermediate between green and violet
    A brown/blue gene and a central brown gene are both found on chromosome 15, whereas a green/blue gene is found on chromosome 19.
  1025. not
    negation of a word or group of words
    Organelle DNA Not all genetic information is found in nuclear DNA.
  1026. point
    a distinguishing or individuating characteristic
    This exquisite control requires multiple regulatory input points.
  1027. person
    a human being
    A person may wonder how this increased complexity is achieved.
  1028. just
    and nothing more
    Genes instruct each cell type- such as skin, brain, and liver-to make discrete sets of proteins at just the right times, and it is through this specificity that unique organisms arise.
  1029. landing
    the act of coming to land after a voyage
    For example, certain sequences indicate the beginning and end of genes, sites for initiating replication and recombination, or provide landing sites for proteins that turn genes on and off.
  1030. display
    something intended to communicate a particular impression
    When two individuals display different phenotypes of the same trait, they are said to have two different alleles for the same gene.
  1031. engine
    motor that converts energy into work or motion
    Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg.
  1032. tendency
    an inclination to do something
    Telomeres play a critical role in chromosome replication and maintenance by counteracting the tendency of the chromosome to otherwise shorten with each round of replication.
  1033. remains
    the dead body of a human being
    The developmentally regulated transcription of globin is controlled by a number of cis-acting DNA sequences, and although there remains a lot to be learned about the interaction of these sequences, one known control sequence is an enhancer called the Locus Control Region (LCR).
  1034. meaning
    the message that is intended or expressed or signified
    This means that the gene's sequence is slightly different in the two individuals, and the gene is said to be polymorphic, "poly" meaning many and "morph" meaning shape or form.
  1035. partner
    a person who is a member of a cooperative relationship
    The two strands are connected to each other by chemical pairing of each base on one strand to a specific partner on the other strand.
  1036. fully
    to the greatest degree or extent; completely or entirely;
    In eukaryotes, this process is not fully understood.
  1037. sometimes
    on certain occasions or in certain cases but not always
    Curiously, eukaryotes lack this recognition sequence and simply initiate translation at the amino acid methionine, usually coded for by the bases AUG, but sometimes GUG.
  1038. mean
    denote or connote
    This means that the gene's sequence is slightly different in the two individuals, and the gene is said to be polymorphic, "poly" meaning many and "morph" meaning shape or form.
  1039. crossing
    a point where two lines (paths or arcs etc.) intersect
    Mendel's Laws-How We Inherit Our Genes In 1866, Gregor Mendel studied the transmission of seven different pea traits by carefully test-crossing many distinct varieties of peas.
  1040. healthy
    free from infirmity or disease
    In this case, the germ line cell is healthy, and the mutation is introduced during the actual process of gamete replication.
Created on Tue Oct 15 13:27:39 EDT 2013

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