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Science practice 600 words

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  1. 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.
  2. diploid
    (genetics) an organism or cell having the normal amount of DNA per cell; i.e., two sets of chromosomes or twice the haploid number
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  3. 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.
  4. intron
    sequence of a eukaryotic gene's DNA that is not translated into a protein
    The Core Gene Sequence: Introns and Exons

    Genes make up about 1 percent of the total DNA in our genome.
  5. 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.
  6. nuclear RNA
    ribonucleic acid found in the nucleolus of the cell
    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.
  7. centromere
    a specialized condensed region of each chromosome that appears during mitosis where the chromatids are held together to form an X shape
    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. These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  8. 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.
  9. 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.
  10. 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. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  11. 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.
  12. 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.
  13. allele
    (genetics) either of a pair (or series) of alternative forms of a gene that can occupy the same locus on a particular chromosome and that control the same character
    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.
  14. 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.
  15. pyrimidine
    a heterocyclic organic compound with a penetrating odor
    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.
  16. prokaryote
    a unicellular organism having cells lacking membrane-bound nuclei; bacteria are the prime example but also included are blue-green algae and actinomycetes and mycoplasma
    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.
  17. structural gene
    a gene that controls the production of a specific protein or peptide
    Structural Genes, Junk DNA, and Regulatory Sequences
    Over 98 percent of the genome is of unknown function.
  18. mRNA
    the template for protein synthesis; the form of RNA that carries information from DNA in the nucleus to the ribosome sites of protein synthesis in the cell
    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.
  19. phenotype
    what an organism looks like as a consequence of the interaction of its genotype and the environment
    When two individuals display different phenotypes of the same trait, they are said to have two different alleles for the same gene.
  20. 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.
  21. 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.
  22. 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.
  23. eukaryote
    an organism with cells characteristic of all life forms except primitive microorganisms such as bacteria; i.e. an organism with `good' or membrane-bound nuclei in its cells
    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.
  24. gamete
    a mature sexual reproductive cell having a single set of unpaired chromosomes
    This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm.
  25. 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.
  26. 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.
  27. mitochondrion
    an organelle containing enzymes responsible for producing energy
    Organelle DNA

    Not all genetic information is found in nuclear DNA. Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  28. ribosome
    an organelle in the cytoplasm of a living cell; they attach to mRNA and move down it one codon at a time and then stop until tRNA brings the required amino acid; when it reaches a stop codon it falls apart and releases the completed protein molecule for use by the cell
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  29. heterozygous
    having dissimilar alleles at corresponding chromosomal loci
    If the alleles are different, they are said to be heterozygous.
  30. blood type
    human blood cells (usually just the red blood cells) that have the same antigens
    Then there are the not so obvious genetic variations, such as blood type.
  31. meiosis
    (genetics) cell division that produces reproductive cells in sexually reproducing organisms; the nucleus divides into four nuclei each containing half the chromosome number (leading to gametes in animals and spores in plants)
    Meiosis is the mode of cell replication for the formation of sperm and egg cells in plants, animals, and many other multicellular life forms.
  32. gene
    (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  33. 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.
  34. DNA
    (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.
  35. RNA
    (biochemistry) a long linear polymer of nucleotides found in the nucleus but mainly in the cytoplasm of a cell where it is associated with microsomes; it transmits genetic information from DNA to the cytoplasm and controls certain chemical processes in the cell
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  36. methionine
    a crystalline amino acid containing sulfur; found in most proteins and essential for nutrition
    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.
  37. organelle
    a specialized part of a cell; analogous to an organ
    Organelle DNA

    Not all genetic information is found in nuclear DNA. Both plants and animals have an organelle-a "little organ" within the cell- called the mitochondrion.
  38. homozygous
    having identical alleles at corresponding chromosomal loci
    If both alleles are the same, the gene is said to be homozygous.
  39. chromosome
    a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  40. mutation
    a change or alteration in form or qualities
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  41. 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.
  42. 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.
  43. methyl group
    the univalent radical CH3- derived from methane
    One chemical modification of DNA, called methylation, involves the addition of a methyl group (-CH3).
  44. mitosis
    cell division in which the nucleus divides into nuclei containing the same number of chromosomes
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  45. 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.
  46. 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.
  47. 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.
  48. 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. This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  49. 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.
  50. nucleotide
    a phosphoric ester of a nucleoside; the basic structural unit of nucleic acids (DNA or RNA)
    In a DNA chain, every base is attached to a sugar molecule (deoxyribose) and a phosphate molecule, resulting in a nucleic acid or nucleotide.
  51. protein
    any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  52. tRNA
    RNA molecules present in the cell (in at least 20 varieties, each variety capable of combining with a specific amino acid) that attach the correct amino acid to the protein chain that is being synthesized at the ribosome of the cell (according to directions coded in the mRNA)
    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.
  53. thymine
    a base found in DNA (but not in RNA) and derived from pyrimidine; pairs with adenine
    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. amino acid
    organic compounds containing an amino group and a carboxylic acid group
    Proteins are long chains containing as many as 20 different kinds of amino acids.
  55. cytosine
    a base found in DNA and RNA and derived from pyrimidine; pairs with guanine
    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.
  56. genome
    the ordering of genes in a haploid set of chromosomes of a particular organism; the full DNA sequence of an organism
    WHAT IS A GENOME?
  57. 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.
  58. 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.
  59. 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.
  60. 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.
  61. encode
    convert information into code
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  62. thalassemia
    an inherited form of anemia caused by faulty synthesis of hemoglobin
    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.
  63. replication
    a quick reply to a question or remark (especially a witty or critical one)
    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.
  64. 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.
  65. repressor
    an agent that represses
    Other regulatory sequences include activators, repressors, and enhancers.
  66. 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.
  67. sex chromosome
    (genetics) 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.
  68. transcription
    something written, especially copied from one medium to another, as a typewritten version of dictation
    Transferring the code from DNA to RNA is a fairly straightforward process called transcription.
  69. 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.
  70. recombination
    (genetics) a combining of genes or characters different from what they were in the parents
    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.
  71. somatic cell
    any of the cells of a plant or animal except the reproductive cells; a cell that does not participate in the production of gametes
    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.
  72. multicellular
    consisting of many 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.
  73. 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.
  74. 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.
  75. 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.
  76. 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.
  77. 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.
  78. 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.
  79. 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.
  80. adenine
    (biochemistry) purine base found in DNA and RNA; pairs with thymine in DNA and with uracil in 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.
  81. 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.
  82. genetic
    of or relating to the science of genetics
    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.
  83. 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.
  84. 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.
  85. cell
    (biology) the basic structural and functional unit of all organisms; they may exist as independent units of life (as in monads) or may form colonies or tissues as in higher plants and animals
    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.
  86. 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.
  87. transfer RNA
    RNA molecules present in the cell (in at least 20 varieties, each variety capable of combining with a specific amino acid) that attach the correct amino acid to the protein chain that is being synthesized at the ribosome of the cell (according to directions coded in the mRNA)
    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.
  88. macromolecule
    any very large complex molecule; found only in plants and animals
    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.
  89. 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.
  90. X chromosome
    the sex chromosome that is present in both sexes: singly in males and doubly in females
    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.
  91. ribonucleic acid
    (biochemistry) a long linear polymer of nucleotides found in the nucleus but mainly in the cytoplasm of a cell where it is associated with microsomes; it transmits genetic information from DNA to the cytoplasm and controls certain chemical processes in the cell
    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.
  92. 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.
  93. purine
    a colorless crystalline organic base containing nitrogen; the parent compound of various biologically important substances
    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.
  94. 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.
  95. telomere
    either (free) end of a eukaryotic chromosome
    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. These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  96. somatic
    affecting or 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.
  97. 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.
  98. 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.
  99. 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.
  100. achondroplasia
    an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
    Well-known dominant alleles occur in the human genes for Huntington disease, a form of dwarfism called achondroplasia, and polydactylism (extra fingers and toes).
  101. 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.
  102. 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.
  103. 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.
  104. hemoglobin
    a hemoprotein composed of globin and heme that gives red blood cells their characteristic color; function primarily to transport oxygen from the lungs to the body tissues
    Globin is the protein that complexes with the iron-containing heme molecule to make hemoglobin.
  105. 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.
  106. molecule
    (physics and chemistry) 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.
  107. 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).
  108. 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.
  109. phenylketonuria
    a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  110. replicate
    reproduce or make an exact copy of
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG. This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  111. 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.
  112. messenger RNA
    the template for protein synthesis; the form of RNA that carries information from DNA in the nucleus to the ribosome sites of protein synthesis in the cell
    For example, all genes that code for proteins are first made into an RNA strand in the nucleus called a messenger RNA (mRNA).
  113. night blindness
    inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  114. regulatory
    restricting according to rules or principles
    Structural Genes, Junk DNA, and Regulatory Sequences
    Over 98 percent of the genome is of unknown function.
  115. PKU
    a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  116. 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.
  117. aerobic
    depending on free oxygen or air
    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.
  118. 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.
  119. synthesize
    combine and form a synthesis
    This is important because DNA strands are always synthesized in the 5' to 3' direction.
  120. 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).
  121. activator
    (biology) any agency bringing about activation; a molecule that increases the activity of an enzyme or a protein that increases the production of a gene product in DNA transcription
    Other regulatory sequences include activators, repressors, and enhancers.
  122. 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.
  123. 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.
  124. adenosine
    (biochemistry) a nucleoside that is a structural component of nucleic acids; it is present in all living cells in a combined form as a constituent of DNA and RNA and ADP and ATP and AMP
    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.
  125. catalyze
    change by catalysis or cause to catalyze
    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.
  126. enzyme
    any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions
    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.
  127. 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.
  128. 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.
  129. 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).
  130. 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).
  131. 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.
  132. code
    a set of rules or principles or laws (especially written ones)
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  133. 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.
  134. symbiotic
    used of organisms (especially of different species) living together but not necessarily in a relation beneficial to each
    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.
  135. 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).
  136. 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.
  137. enhancer
    anything that serves by contrast to call attention to another thing's good qualities
    Other regulatory sequences include activators, repressors, and enhancers.
  138. homologous
    corresponding or similar in position or structure or function or characteristics; especially derived from an organism of the same species
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  139. 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.
  140. 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.
  141. strand
    a poetic term for a shore (as the area periodically covered and uncovered by the tides)
    The nucleus contains long strands of DNA that encode this genetic information.
  142. 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.
  143. 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.
  144. organism
    a living thing that has (or can develop) the ability to 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.
  145. complementary
    acting as or providing a complement (something that completes the whole)
    Thus, A-T and G-C base pairs are said to be complementary.
  146. 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.
  147. blood group
    human blood cells (usually just the red blood cells) that have the same antigens
    Control of the human blood group system provides a good example of co-dominant alleles.
  148. 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.
  149. 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.
  150. 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.
  151. 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.
  152. type A
    the blood group whose red cells carry the A antigen
    The possible combinations of the three alleles are OO, AO, BO, AB, AA, and BB. Blood types A and B are "co-dominant" alleles, whereas O is "recessive".
  153. albinism
    the congenital absence of pigmentation in the eyes and skin and hair
    The gene for albinism in humans is an epistatic gene.
  154. fertilization
    making fertile as by applying fertilizer or manure
    However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria.
  155. differentiation
    a discrimination between things as different and 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.
  156. 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.
  157. 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.
  158. structural
    relating to or having or characterized by structure
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  159. upstream
    toward the source or against the current
    In general, there are two "promoter" sequences upstream from the beginning of every gene.
  160. 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).
  161. 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.
  162. 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.
  163. genetic mutation
    (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism
    Genetic mutations occur randomly, and the effect of a small number of mutations on a single gene may be minimal.
  164. 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).
  165. cytoplasm
    the protoplasm of a cell excluding the nucleus; is full of proteins that control cell metabolism
    The mRNA carries the information encoded in DNA out of the nucleus to the protein assembly machinery, called the ribosome, in the cytoplasm.
  166. transcript
    something that has been transcribed; a written record (usually typewritten) of dictated or recorded speech
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  167. acid
    any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  168. 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.
  169. 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).
  170. 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.
  171. 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.
  172. color blindness
    genetic inability to distinguish differences in hue
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  173. 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.
  174. 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.
  175. 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).
  176. 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.
  177. duplication
    the act of copying or making a duplicate (or duplicates) 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.
  178. 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.
  179. chloroplast
    plastid containing chlorophyll and other pigments; in plants that carry out photosynthesis
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  180. interaction
    a mutual or reciprocal action; interacting
    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).
  181. 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.
  182. functional
    designed for or capable of a particular function or 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.
  183. correlate
    to bear a reciprocal or mutual relation
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  184. 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.
  185. subset
    a set whose members are members of another set; a set contained within another set
    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.
  186. 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.
  187. 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.
  188. specificity
    the quality of being specific 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.
  189. methyl
    the univalent radical CH3- derived from methane
    One chemical modification of DNA, called methylation, involves the addition of a methyl group (-CH3).
  190. 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.
  191. variation
    the process of varying or being varied
    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.
  192. muscle cell
    an elongated contractile cell that forms the muscles of the body
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  193. 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.
  194. linked
    connected by a link, 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.
  195. sperm cell
    the male reproductive cell; the male gamete
    In the first stages of development, a sperm cell and egg cell fuse.
  196. evolutionary
    of or relating to or produced by evolution
    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.
  197. 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.
  198. amoeba
    naked freshwater or marine or parasitic protozoa that form temporary pseudopods for feeding and locomotion
    This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria.
  199. decode
    convert code 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.
  200. double helix
    a pair of parallel helices intertwined about a common axis
    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.
  201. differentiate
    become distinct and acquire a different character
    At some point, however, these cells begin to differentiate, or change into specific cell types.
  202. 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.
  203. molecular
    relating to or produced by or consisting of molecules
    The "Central Dogma"-a fundamental principle of molecular biology-states that genetic information flows from DNA to RNA to protein.
  204. 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.
  205. nucleus
    a part of the cell containing DNA and RNA and 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.
  206. mutate
    undergo mutation
    Thus, alternate transcripts from a single gene could reduce the chances that a mutated gene is transmitted.
  207. evolve
    undergo development or evolution
    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.
  208. maturation
    coming to full development; becoming mature
    The maturation of germ line stem cells into gametes requires the diploid number of each chromosome be reduced by half.
  209. ultraviolet radiation
    radiation lying in the ultraviolet range; wave lengths 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.
  210. pathogen
    any disease-producing agent (especially a virus or bacterium or other microorganism)
    Mutations also provide a species with the opportunity to adapt to new environments, as well as to protect a species from new pathogens.
  211. hemophilia
    congenital tendency to uncontrolled bleeding; usually affects males and is transmitted from mother to son
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  212. viral
    relating to or caused by a virus
    For example, some viral genes are known to have high mutation rates.
  213. pigment
    dry coloring material (especially a powder to be mixed with a liquid to produce paint, etc.)
    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.
  214. 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.
  215. deleterious
    harmful to living things
    This process may have evolved as a way to limit the deleterious effects of mutations.
  216. 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.
  217. 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.
  218. 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.
  219. polymer
    a naturally occurring or synthetic compound consisting of large molecules made up of a linked series of repeated simple monomers
    Just like DNA, ribonucleic acid (RNA) is a chain, or polymer, of nucleotides with the same 5' to 3' direction of its strands.
  220. interact
    act together or towards others or with others
    It may also interact with other factors to determine which alpha gene is turned on.
  221. oxygen
    a nonmetallic bivalent element that is normally a colorless odorless tasteless nonflammable diatomic gas; constitutes 21 percent of the atmosphere by volume; the most abundant element in the earth's crust
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  222. 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.
  223. initiator
    a person who initiates 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.
  224. multiple
    having or involving or consisting of more than one part or entity or individual
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  225. combination
    the act of combining things to form a new whole
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  226. regulate
    bring into conformity with rules or principles or usage; impose regulations
    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.
  227. beta
    the 2nd 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.
  228. translation
    a written communication in a second language having the same meaning as the written communication in a first language
    This must be done both during the transcription and the translation process.
  229. 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.
  230. mechanism
    device consisting of a piece of machinery; has moving parts that perform some function
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  231. chemical
    of or made from or using substances produced by or used in 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.
  232. 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.
  233. 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.
  234. 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.
  235. 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.
  236. 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.
  237. 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.
  238. transcribe
    write out from speech, notes, etc.
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  239. structure
    a thing constructed; a complex entity constructed 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.
  240. percent
    a proportion in relation to a whole (which is usually the amount per hundred)
    The Core Gene Sequence: Introns and Exons

    Genes make up about 1 percent of the total DNA in our genome.
  241. 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).
  242. adaptive
    having a capacity for adaptation
    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.
  243. blood transfusion
    the introduction of blood or blood plasma into a vein or artery
    Treatments include blood transfusions, iron chelators, and bone marrow transplants.
  244. 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.
  245. activate
    put in motion or move to act
    Similar mechanisms serve to activate mRNAs at other stages of development and differentiation, such as when specific protein products are needed.
  246. attributable
    capable of being attributed
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  247. disease
    an impairment of health or a condition of abnormal functioning
    There are many diseases caused by mutations in mitochondrial DNA (mtDNA).
  248. decipher
    convert code into ordinary language
    Deciphering the code in the resulting mRNA is a little more complex.
  249. skeletal
    of or relating to or forming or attached to a skeleton
    Individuals with Marfan's syndrome exhibit abnormalities in their eyes, skeletal system, and cardiovascular system.
  250. 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.
  251. segregation
    the act of segregating or sequestering
    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.
  252. 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.
  253. 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.
  254. site
    the piece of land on which something is located (or is to be 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.
  255. 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.
  256. 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.
  257. 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.
  258. brain cell
    a nerve cell in the brain
    Some will become blood cells or kidney cells, whereas others may become nerve or brain cells.
  259. specify
    be specific about
    Life is specified by genomes.
  260. 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.
  261. 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.
  262. bacterium
    (microbiology) single-celled or noncellular spherical or spiral or rod-shaped organisms lacking chlorophyll that reproduce by fission; important as pathogens and for biochemical properties; taxonomy is difficult; often considered to be plants
    Therefore, amoeba must always have a symbiotic relationship with an aerobic bacterium.
  263. albino
    a person with congenital albinism: white hair and milky skin; eyes are usually pink
    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.
  264. 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.
  265. occur
    come to pass
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG. This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  266. complex
    complicated in structure; consisting of interconnected parts
    The ribosome complex uses mRNA as a template to synthesize the exact protein coded for by the gene.
  267. chemical change
    (chemistry) any process determined by the atomic and molecular composition and structure of the substances involved
    Transcription can also be regulated by subtle variations in DNA structure and by chemical changes in the bases to which transcription factors bind.
  268. 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.
  269. spatial
    pertaining to or involving or having the nature of space
    Cells that compose tissues in multicellular organisms typically replicate by organized duplication and spatial separation of their cellular genetic material, a process called mitosis.
  270. 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.
  271. human
    any living or extinct member of the family Hominidae characterized by superior intelligence, articulate speech, and erect carriage
    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.
  272. virus
    (virology) ultramicroscopic infectious agent that replicates itself only within cells of living hosts; many are pathogenic; a piece of nucleic acid (DNA or RNA) wrapped in a thin coat of protein
    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.
  273. 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.
  274. 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.
  275. 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.
  276. 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.
  277. 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!
  278. 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.
  279. 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.
  280. 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.
  281. 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.
  282. 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.
  283. helix
    a curve that lies on the surface of a cylinder or cone and cuts the element at a constant angle
    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.
  284. 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.
  285. synonymous
    (of words) 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.
  286. linkage
    the act of linking things together
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  287. transmission
    communication by means of transmitted 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.
  288. editing
    putting something (as a literary work or a legislative bill) 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.
  289. feedback
    the process in which part of the output of a system is returned to its input in order to regulate its further output
    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.
  290. 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.
  291. gestation
    the period during which an embryo develops (about 266 days in humans)
    By week five of gestation, globin is expressed in early liver cells.
  292. component
    an artifact that is one of the individual parts of which a composite entity is made up; especially a part that can be separated from or attached to a system
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  293. identify
    recognize as being; establish the identity of someone or something
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  294. stabilizing
    causing to become stable
    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.
  295. geneticist
    a biologist who specializes in genetics
    Comparing the presence or absence of pseudogenes is one method used by evolutionary geneticists to group species and to determine relatedness.
  296. alternate
    go back and forth; swing back and forth between two states or conditions
    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?
  297. cancerous
    relating to or affected with cancer
    Although most defective cells die quickly, some can persist and may even become cancerous if the mutation affects the ability to regulate cell growth.
  298. germ
    a small apparently simple structure (as a fertilized egg) from which new tissue can develop into a complete organism
    One early type of differentiated cell is the germ line cell, which may ultimately develop into mature gametes.
  299. regulation
    the act of bringing to uniformity; making regular
    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.
  300. offspring
    the immediate descendants of a person
    Nearly 50 years earlier, Gregor Mendel had characterized hereditary units as factors- observable differences that were passed from parent to offspring.
  301. 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.
  302. researcher
    a scientist who devotes himself to doing research
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  303. 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.
  304. anemia
    a deficiency of red blood cells
    Examples of recessive disorders in humans include sickle cell anemia, Tay-Sachs disease, and phenylketonuria (PKU).
  305. lineage
    the kinship relation between an individual and the individual's progenitors
    It has also been used to identify an ancient maternal lineage from which modern man evolved.
  306. 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.
  307. nuclear
    constituting or like a nucleus
    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.
  308. generation
    group of genetically related organisms constituting a single step in the line of descent
    In this way, the information in a DNA sequence is readily copied and passed on to the next generation of cells.
  309. 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.
  310. ultraviolet
    having or employing wavelengths shorter than light but longer than X-rays; lying outside the visible spectrum at its violet end
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  311. accumulate
    get or gather together
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  312. 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.
  313. input
    signal going into an electronic system
    This exquisite control requires multiple regulatory input points.
  314. complement
    something added to complete or 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.
  315. estimate
    judge tentatively or form an estimate of (quantities or time)
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  316. heredity
    the biological process whereby genetic factors are transmitted from one generation to the next
    Mechanisms of Genetic Variation and Heredity

    Does Everyone Have the Same Genes?
  317. genetics
    the branch of biology that studies 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.
  318. contribute
    provide
    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.
  319. 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.
  320. 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.
  321. 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.
  322. recognize
    perceive to be the same
    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.
  323. 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.
  324. bacteria
    (microbiology) single-celled or noncellular spherical or spiral or rod-shaped organisms lacking chlorophyll that reproduce by fission; important as pathogens and for biochemical properties; taxonomy is difficult; often considered to be plants
    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.
  325. 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.
  326. locus
    the scene of any event or action (especially the place of a meeting)
    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).
  327. 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.
  328. responsible
    worthy of or requiring responsibility or trust; or 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.
  329. redundant
    more than is needed, desired, or required
    These redundant codons usually differ at the third position.
  330. 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.
  331. immune system
    a system (including the thymus and bone marrow and lymphoid tissues) that protects the body from foreign substances and pathogenic organisms by producing the immune response
    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.
  332. modification
    the act of making something different (as e.g. the size of a garment)
    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.
  333. 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.
  334. 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.
  335. potential
    existing in possibility
    Now the mutation has the potential to be passed on to the next generation.
  336. role
    the actions and activities assigned to or required or expected of a person or group
    DNA directs the synthesis of a variety of RNA molecules, each with a unique role in cellular function.
  337. antibody
    any of a large variety of proteins normally present in the body or produced in response to an antigen which it neutralizes, thus producing 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.
  338. 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.
  339. 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.
  340. nascent
    being born or beginning
    This stem then causes the polymerase to trip and release the nascent, or newly formed, mRNA.
  341. evolution
    (biology) the sequence of events involved in the evolutionary development of a species or taxonomic group of organisms
    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.
  342. pattern
    a perceptual structure
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  343. biological
    pertaining to biology or 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.
  344. 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.
  345. scientist
    a person with advanced knowledge of one or more sciences
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  346. affecting
    arousing affect
    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.
  347. 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.
  348. differentiated
    made different (especially in the course of development) or shown to be different
    One early type of differentiated cell is the germ line cell, which may ultimately develop into mature gametes.
  349. transfusion
    the introduction of blood or blood plasma into a vein or artery
    Treatments include blood transfusions, iron chelators, and bone marrow transplants.
  350. 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.
  351. stabilize
    support or hold steady and make steadfast, with or as if with a brace
    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.
  352. fundamental
    any factor that could be considered important to the understanding of a particular business
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  353. nutrient
    any substance that can be metabolized by an animal to give energy and build tissue
    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.
  354. congenital
    present at birth but not necessarily hereditary; acquired during fetal development
    These include the genes for hemophilia, red-green color blindness, and congenital night blindness.
  355. contain
    contain or hold; 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.
  356. restrict
    place under restrictions; 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?
  357. complicate
    make more complicated
    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.
  358. 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.
  359. accumulation
    the act of accumulating
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  360. 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.
  361. aging
    the organic process of growing older and showing the effects of increasing age
    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.
  362. 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.
  363. 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.
  364. addition
    the arithmetic operation of summing; calculating the sum of two or more numbers
    In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime.
  365. species
    (biology) 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.
  366. 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.
  367. sibling
    a person's brother or sister
    With such a range of possibilities, it is amazing that siblings look so much alike!
  368. migration
    the movement of persons from one country or locality to another
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  369. energy
    forceful exertion
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  370. 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.
  371. 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.
  372. minimal
    the least possible
    Genetic mutations occur randomly, and the effect of a small number of mutations on a single gene may be minimal.
  373. degeneration
    the process of declining from a higher to a lower level of effective power or vitality or essential quality
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  374. 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.
  375. edit
    prepare for publication or presentation by correcting, revising, or adapting
    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.
  376. Parkinson
    English surgeon (1755-1824)
    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.
  377. propagate
    multiply sexually or asexually
    This will allow the virus to propagate freely in its environment.
  378. 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.
  379. immature
    not yet mature
    In some organisms, the egg houses store immature mRNAs that become translationally active only after fertilization.
  380. 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.
  381. associate
    bring or come into association or 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.
  382. reliable
    worthy of reliance or trust
    This provides a reliable indication of the beginning and end of the coding region for that gene.
  383. 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.
  384. switch
    control consisting of a mechanical or electrical or electronic device for making or breaking or changing 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.
  385. 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.
  386. 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.
  387. require
    have need of
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  388. involve
    contain as a part
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  389. 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.
  390. normal
    being approximately average or within certain limits in e.g. intelligence and development
    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. precursor
    something that precedes and indicates 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.
  392. 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.
  393. blueprint
    photographic print of plans or technical drawings etc.
    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.
  394. 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).
  395. production
    the act or process of producing 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.
  396. development
    a process in which something passes by degrees to a different stage (especially a more advanced or mature stage)
    In fact, at each stage of development, different globin genes are turned on and off through a process of transcriptional regulation called "switching".
  397. 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.
  398. 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.
  399. transmitting
    the act of sending a message; causing a message to be transmitted
    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.
  400. normally
    under normal conditions
    Men normally have an X and a Y combination of sex chromosomes, whereas women have two X's. Because only men inherit Y chromosomes, they are the only ones to inherit Y-linked traits.
  401. accommodating
    obliging; willing to do favors
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG. This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  402. separate
    standing apart; not attached to or supported by anything
    Why Is There a Separate Mitochondrial Genome?
  403. affect
    have an effect 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.
  404. transport
    move something or somebody around; usually over long distances
    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.
  405. divide
    a serious disagreement between two groups of people (typically producing tension or hostility)
    The biological information contained in a genome is encoded in its deoxyribonucleic acid (DNA) and is divided into discrete units called genes.
  406. 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.
  407. 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.
  408. diabetes
    a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst
    For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases.
  409. random
    lacking any definite plan or order or purpose; governed by or depending on chance
    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.
  410. 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.
  411. toxic
    of or relating to or caused by a toxin or poison
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  412. survival
    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.
  413. found
    food and lodging provided in addition to money
    In 1909, Danish botanist Wilhelm Johanssen coined the word gene for the hereditary unit found on a chromosome.
  414. 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.
  415. clone
    a group of genetically identical cells or organisms derived from a single cell or individual by some kind of asexual reproduction
    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.
  416. functioning
    performing or able to perform its regular function
    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.
  417. progression
    the act of moving forward (as toward a goal)
    However, evidence suggests that the mutations contribute to the progression of both diseases.
  418. reduce
    make smaller
    Thus, alternate transcripts from a single gene could reduce the chances that a mutated gene is transmitted.
  419. exhibit
    to show, 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.
  420. 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.
  421. biologist
    (biology) 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.
  422. cycle
    a periodically repeated sequence of events
    Genetic Variation
    The cell cycle is the process that a cell undergoes to replicate.
  423. 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).
  424. generator
    someone who originates or causes or initiates something
    Thus, they are often referred to as the power generators of the cell.
  425. sac
    an enclosed space
    During the first few weeks of life, embryonic globin is expressed in the yolk sac of the egg.
  426. tracking
    the pursuit (of a person or animal) 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.
  427. 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.
  428. pedigree
    the descendants of one 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.
  429. conversion
    the act of changing from one use or function or purpose to another
    The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen.
  430. 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.
  431. substitution
    the act of putting one thing or person in the place of another: "he sent Smith in for Jones but the substitution came too late to help"
    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.
  432. 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.
  433. mammal
    any warm-blooded vertebrate having the skin more or less covered with hair; young are born alive except for the small subclass of monotremes and nourished with milk
    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. These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  434. hormone
    the secretion of an endocrine gland that is transmitted by the blood to the tissue on which it has a specific effect
    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.
  435. 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. These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes.
  436. 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.
  437. hybrid
    a composite of mixed origin
    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.
  438. scenario
    an outline or synopsis of a play (or, by extension, of a literary work)
    Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible.
  439. active
    characterized by energetic activity
    Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells.
  440. benign
    kindness of disposition or manner
    This does not mean, however, that somatic cell mutations, sometimes called acquired mutations, are benign.
  441. 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.
  442. 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.
  443. 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.
  444. immune
    relating to the condition of immunity
    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.
  445. continuous
    continuing in time or space without interruption
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  446. reconstruct
    build again
    By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species.
  447. precedence
    status established in order of importance or urgency
    For some alleles, their influence on phenotype takes precedence over all other alleles.
  448. 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.
  449. 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.
  450. gender
    the properties that distinguish organisms on the basis of their reproductive roles
    Subsequently, genes on that chromosome that do not code for gender are expressed in the male phenotype, even if they are recessive.
  451. 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?
  452. efficient
    being effective without wasting time or effort or expense
    One very efficient point occurs at transcription, such that an mRNA is produced only when a gene product is needed.
  453. stumble
    miss a step and fall or nearly fall
    Transcription terminates when the polymerase stumbles upon a termination, or stop signal.
  454. 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.
  455. variable
    something that is likely to vary; something that is subject to variation
    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.

    A chromosome is composed of a very long molecule of DNA and associated proteins that carry hereditary information.
  456. survive
    continue in existence after (an adversity, etc.)
    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.
  457. intervene
    be placed or located between other things or extend between spaces and events
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  458. 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.
  459. 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.
  460. 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.
  461. 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.
  462. panel
    sheet that forms a distinct (usually flat and rectangular) section or component of something
    Recombination involves pairing between complementary strands of two parental duplex DNAs (top and middle panel).
  463. therapy
    (medicine) the act of caring for someone (as by medication or remedial training etc.)
    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.
  464. default
    an option that is selected automatically unless an alternative is specified
    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.
  465. detection
    the perception that something has occurred or some state exists
    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.
  466. analysis
    the abstract separation of a whole into its constituent parts in order to study the parts and their relations
    For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America.
  467. depend
    be contingent upon (something that is elided)
    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.
  468. potentially
    with a possibility of becoming actual
    This is a normal self-preservation action to prevent a potentially harmful double dose of genes.
  469. effect
    a phenomenon that follows and 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.
  470. mutually
    in a mutual or 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.
  471. straightforward
    pointed directly ahead
    Transferring the code from DNA to RNA is a fairly straightforward process called transcription.
  472. membrane
    a pliable sheet of tissue that covers or lines or connects the organs or cells of animals or plants
    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.
  473. research
    a search 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.
  474. appropriate
    suitable for a particular person or place or condition etc
    Genes code for proteins that attach to the genome at the appropriate positions and switch on a series of reactions called gene expression.
  475. 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.
  476. complexity
    the quality of being intricate and compounded
    A person may wonder how this increased complexity is achieved.
  477. specified
    clearly and explicitly stated
    Life is specified by genomes.
  478. symptom
    (medicine) any sensation or change in bodily function that is experienced by a patient and is associated with a particular disease
    Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue.
  479. 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.
  480. software
    (computer science) written programs or procedures or rules and associated documentation pertaining to the operation of a computer system and that are stored in read/write memory
    In the absence of a complete mRNA sequence, the boundaries can be estimated by ever-improving, but still inexact, gene prediction software.
  481. 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.
  482. precede
    be earlier in time; go back further
    Methylation frequently occurs at cytosine residues that are preceded by guanine bases, oftentimes in the vicinity of promoter sequences.
  483. persist
    be persistent, 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.
  484. culprit
    someone who perpetrates wrongdoing
    In this case, somatic mosaicism may be the culprit.
  485. develop
    grow, progress, unfold, or evolve through a process of evolution, natural growth, differentiation, or a conducive environment
    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.
  486. intervening
    occurring or falling between events or points in time
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  487. 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.
  488. iris
    muscular diaphragm that controls the size of the pupil which in turn controls the amount of light that enters the eye; it forms the colored portion of the eye
    It is speculated that there may be other genes that control other factors, such as the amount of pigment deposited in the iris.
  489. complete
    perfect and complete in every respect; 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.
  490. signal
    any nonverbal 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.
  491. attach
    be attached; 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.
  492. 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.
  493. 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.
  494. host
    a person who invites guests to a social event (such as a party in his or her own home) and who is responsible for them while they are there
    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.
  495. significant
    rich in significance or 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.
  496. hydrogen
    a nonmetallic univalent element that is normally a colorless and odorless highly flammable diatomic gas; the simplest and lightest and most abundant element in the universe
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  497. fuse
    any igniter that is used to initiate the burning of a propellant
    In the first stages of development, a sperm cell and egg cell fuse.
  498. primary
    of first rank or importance or value; direct and immediate rather than secondary
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  499. advent
    arrival that has been awaited (especially of something momentous)
    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.
  500. accommodate
    have room for; hold without crowding
    For example, the amino acid serine is encoded by UCU, UCC, UCA, and/or UCG. This redundancy is key to accommodating mutations that occur naturally as DNA is replicated and new cells are produced.
  501. 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.
  502. counterpart
    a person or thing having the same function or characteristics as another
    Some genes mask the expression of other genes just as a fully dominant allele masks the expression of its recessive counterpart.
  503. 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.
  504. significantly
    in a significant 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.
  505. 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.
  506. 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.
  507. participate
    become a participant; 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.
  508. indicate
    indicate a place, direction, person, or thing; either spatially or figuratively
    The problem is the lack of a single sequence pattern that indicates the beginning or end of a eukaryotic gene.
  509. 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.
  510. approximately
    (of quantities) 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.
  511. terminated
    having come or been brought to a conclusion
    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. Translation is terminated for both prokaryotes and eukaryotes when the ribosome reaches one of the three stop codons.
  512. sophisticated
    having or appealing to those having worldly knowledge and refinement and savoir-faire
    This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations.
  513. translate
    restate (words) 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.
  514. react
    show a response or a reaction 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.
  515. 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.
  516. 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.
  517. experimental
    of the nature of or undergoing an experiment
    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.
  518. 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.
  519. several
    (used with count nouns) 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.
  520. 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.
  521. restricted
    subject to restriction or subjected to restriction
    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.
  522. concentrate
    make denser, stronger, or purer
    Mitochondrial DNA mutations can also concentrate in the mitochondria of specific tissues.
  523. 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.
  524. enable
    render capable or able for 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.
  525. termination
    the act of ending something
    Transcription terminates when the polymerase stumbles upon a termination, or stop signal.
  526. 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.
  527. accumulated
    periodically accumulated over time
    A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria.
  528. perspective
    a way of regarding situations or topics etc.
    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.
  529. adjacent
    having a common boundary or edge; abutting; touching
    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.
  530. 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. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  531. remove
    remove something concrete, as by lifting, pushing, or taking off, or remove something abstract
    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.
  532. 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.
  533. 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.
  534. nonetheless
    despite anything to the contrary (usually following a concession)
    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.
  535. portion
    something determined in relation to something that includes it
    In the human genome, the coding portions of a gene, called exons, are interrupted by intervening sequences, called introns.
  536. infect
    contaminate with a disease or microorganism
    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.
  537. 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.
  538. present
    temporal sense; intermediate between past and future; now existing or happening or in consideration
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  539. reside
    live (in a certain place)
    Ultimately, however, the genetic code resides in DNA because only DNA is passed from generation to generation.
  540. insignificant
    signifying nothing
    Regulatory Sequences

    A class of sequences called regulatory sequences makes up a numerically insignificant fraction of the genome but provides critical functions.
  541. category
    a general concept that marks divisions or coordinations in a conceptual scheme
    A particularly important category of genetic linkage has to do with the X and Y sex chromosomes.
  542. 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.
  543. infection
    (medicine) the invasion of the body by pathogenic microorganisms and their multiplication which can lead to tissue damage and disease
    Viruses also produce certain enzymes that are necessary for infection of a host cell.
  544. edited
    improved or corrected by critical editing
    In addition, a eukaryotic gene does not code for a protein in one continuous stretch of DNA. Both exons and introns are "transcribed" into mRNA, but before it is transported to the ribosome, the primary mRNA transcript is edited.
  545. carbon
    an abundant nonmetallic tetravalent element occurring in three allotropic forms: amorphous carbon and graphite and diamond; occurs in all organic compounds
    Each base has a slightly different composition, or combination of oxygen, carbon, nitrogen, and hydrogen.
  546. 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.
  547. 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.
  548. 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).
  549. 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.
  550. 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!
  551. primarily
    for the most part
    X-linked traits not related to feminine body characteristics are primarily expressed in the phenotype of men.
  552. 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.
  553. 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.
  554. 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.
  555. remnant
    a small part or portion that remains 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.
  556. 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.
  557. percentage
    a proportion in relation to a whole (which is usually the amount per hundred)
    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.
  558. outcome
    something that results
    If both parents are blood type B and both have a B and a recessive O, then their children will either be BB, BO, or OO. 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.
  559. error
    a wrong action attributable to bad judgment or ignorance or inattention
    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.
  560. concept
    an abstract or general idea inferred or derived from specific instances
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  561. 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.
  562. maintenance
    activity involved in maintaining 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.
  563. describe
    give a description of
    The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same.
  564. 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.
  565. represent
    be a delegate or spokesperson for; represent somebody's interest or be a proxy or substitute for, as of politicians and office holders representing their constituents, or of a tenant representing other tenants in a housing dispute
    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.
  566. multiply
    combine by multiplication
    Upon fertilization, an egg cell begins to multiply to produce a ball of cells that are all the same.
  567. 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.
  568. 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.
  569. identical
    being the exact same one; not any other:
    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.
  570. 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.
  571. exposure
    the state of being vulnerable or exposed
    DNA mutations can also be introduced by toxic chemicals and, particularly in skin cells, exposure to ultraviolet radiation.
  572. 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.
  573. 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.
  574. 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.
  575. 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!
  576. atom
    (physics and chemistry) the smallest component of an element having the chemical properties of the element
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  577. exist
    have an existence, be extant
    However, the ribose sugar component of RNA is slightly different chemically than that of DNA. RNA has a 2' oxygen atom that is not present in DNA. Other fundamental structural differences exist.
  578. global
    involving the entire earth; not limited or provincial in scope
    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.
  579. 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.
  580. partial
    being or affecting only a part; not total
    Because of the effects of an epistatic gene, some individuals who inherit the dominant, disease-causing gene show only partial symptoms of the disease.
  581. understanding
    the cognitive condition of someone who understands
    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.
  582. 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.
  583. 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.
  584. 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.
  585. 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.
  586. 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.
  587. 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.
  588. intrigue
    a crafty and involved plot to achieve your (usually sinister) ends
    Considerable intrigue surrounds the effects of DNA methylation, and many researchers are working to unlock the mystery behind this concept.
  589. compact
    closely and firmly united or packed together
    The inactivated X chromosomes become highly compacted structures known as Barr bodies.
  590. appreciation
    understanding of the nature or meaning or quality or magnitude of something
    Therefore, an understanding of DNA, gene structure, and function is fundamental for an appreciation of the molecular biology of the cell.
  591. novel
    an extended fictional work in prose; usually in the form of a story
    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.
  592. modify
    cause to change; make different; cause a transformation
    This system also precisely controls the amount of a gene product that is produced and can further modify the product after it is made.
  593. achieve
    to gain with effort
    A person may wonder how this increased complexity is achieved.
  594. Marshall
    United States actor (1914-1998)
    In 1961, Marshall Nirenberg and Heinrich Matthaei correlated the first codon (UUU) with the amino acid phenylalanine.
  595. assembly
    a group of persons who are 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.
  596. 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.
  597. 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.
  598. influence
    a power to affect persons or events especially power based on prestige etc
    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.
  599. 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.
  600. accomplish
    to gain with effort
    This reduction is accomplished through a process called meiosis, where one chromosome in a diploid pair is sent to each daughter gamete.