Chapter 15: The Chromosomal Basis of Inheritance chromosome theory of inheritance: a basic principle in biology stating that genes

biology stating that genes are located on chromosomes and that the behavior of chromosomes during meiosis accounts for inheritance patterns wild type: an individual with the phenotype most commonly observed in natural populations; also refers to the phenotype itself sex linked gene: a gene located on the X or Y chromosome, resulting in a distinctive pattern of inheritance Duchenne muscular dystrophy: a human genetic disease caused by a sex-linked recessive allele and characterized by progressive weakening and a loss of muscle tissue hemophilia: a human genetic disease caused by a sex-linked recessive allele resulting in the absence of one or more blood-clotting proteins and characterized by excessive bleeding following injury Barr body: a dense object lying along the inside of the nuclear envelope in cells of female mammals, representing a highly condensed, inactivated X chromosome linked genes: these are located close enough together on a chromosome that they tend to be inherited together genetic recombination: general term for the production of offspring with combinations of traits that differ from those found in either parent parental type: an offspring with a phenotype that matches one of the parental phenotypes; also refers to the phenotype itself recombinant type: an offspring whose phenotype differs from that of the parents; also refers to the phenotype itself crossing over: the reciprocal exchange of genetic material between nonsister chromatids during prophase I of meiosis genetic map: an ordered list of genetic loci along a chromosome linkage map: this is based on the frequencies of recombination between markers during crossing over of homologous chromosomes map unit: a measurement of the distance between two genes, equivalent to a 1% recombination frequency cytogenetic map: a chart of a chromosome that locates genes with respect to chromosomal features distinguishable in a microscope nondisjunction: an error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other aneuploidy: a chromosomal aberration in which one or more chromosomes are present in extra copies or are deficient in number monosomic: refers to a cell that has only one copy of a particular chromosome instead of the normal two trisomic: refers to a diploid cell that has three copies of a particular chromosome instead of the normal two polyploidy: a chromosomal alteration, due to an accident of cell division, in which the organism possesses more than two complete chromosome sets deletion: a deficiency in a chromosome resulting from the loss of a fragment through breakage duplication: an aberration in chromosome structure due to fusion with a fragment from a homologous chromosome, such that a portion of a chromosome is repeated inversion: an aberration in chromosome structure resulting from reattachment of a chromosomal fragment in a reverse orientation to the chromosome from which it originated translocation: an aberration in chromosome structure resulting from attachment of a chromosomal fragment to a nonhomologous chromosome Down syndrome: a human genetic disease caused by the presence of an extra chromosome 21 and characterized by mental retardation and heart and respiratory defects genomic imprinting: a phenomenon in which expression of an allele in offspring depends on whether the allele is inherited from the male or female parent

Chapter 16: The Molecular Basis of Inheritance Transformation: a change in genotype and phenotype due to the assimilation of external DNA by a cell Bacteriophages: viruses that infect bacteria used as tools by researchers in molecular genetics (PHAGES) Double Helix: presence of two strands in DNA structure Semi-conservative Model: when double helix replicates, each of the two daughter molecules will have one old strand, derived from the parent molecule, and one new strand Conservative model: two parental strands re associate after acting as templates for the new strands, thus restoring the parental double helix dispersive model: each new strand is a mix of old and new Origins of Replication: special sites where DNA replication begins Replication Fork: end of replication bubble, a y-shaped region where the new strands of DNA are elongating. DNA Polymerases: elongation of new DNA at a replication fork is catalyzed by enzymes called DNA Polymerases Leading Strand: made by continuous addition of nucleotides on complementary strand by pol III Lagging strand: synthesized in fragments away from the replication fork Okasaki Fragments: what lagging strand is made of DNA Ligase: joins ligates (sugar-phosphate backbones of O Fragments) forming a single new DNA strand Primer: initial, short nucleotide chain Primase: can start an RNA chain from scratch Helicase: untwists double helix at the replication fork, separating the two parental strands and making them available as template strands topoisomerase: relieves strain of replication fork single-strand binding protein: after helicase separates the two parental strands, these molecules bind to unpaired DNA strands, stabilizing them until they serve as templates for the synthesis of new complementary strands mismatch repair: cells use special enzymes to fix incorrectly paired nucleotides nuclease: segment of strand containing damage is cut out by this and resulting gap is filled in with properly paired nucleotides nucleotide excision repair: this type of enzyme-driven DNA repair Telomeres: eukaryotic chromosomal DNA molecules have nucleotide sequences called this at their ends (read) telomerase: catalyzes the lengthening of telomeres in eukaryotic germ cells, therefore restoring their original length and compensating for the shortening that occurs during DNA replication

Chapter 17: Gene to Protein One gene-one polypeptide hypothesis: the premise that a gene is a segment of DNA that codes for one polypeptide Transcription: the synthesis of RNA on a DNA Messenger RNA (mRNA): a type of RNA, synthesized from DNA, that attaches to ribosomes in the cytoplasm and specifies the primary structure of a protein Translation: the synthesis of a polypeptide using the genetic information encoded in an mRNA molecule Ribosome: a cell organelle constructed in the nucleolus and functioning as the site of protein synthesis in the sytoplasm; consists of rRNA and protein molecules, which make up two subunits RNA processing: modification of RNA before it leaves the nucleus, a process unique to eukaryotes Primary transcript: an initial RNA transcript; also called pre-mRNA when transcribed from a protein-coding gene Triplet code: a set of three nucleotide long words that specify the amino acids for polypeptide chains Template strand: the DNA strand that provides the template for ordering the sequence of nucleotides in an RNA transcript Codon: a three-nucelotide sequence of DNA or mRNA that specifies a particular amino acid or termination signal; the basic unit of the genetic code Reading Frame: the way a cell's mRNA-translating machinery groups the mRNA nucelotides into codons Promoter: a specific nucleotide sequence in DNA that binds RNA polymerase and indicates where to start transcribing RNA Terminator: in prokaryotes, a special sequence of nucelotides in DNA that marks the end of a gene; it signals RNA polymerase to release the newly made RNA molecule, which then departs from tthe gene Transcription unit: a region of a DNA molecule that is trancribed into an RNA molecule Transcription factors: a regulatory protein that binds to DNA and stimulates transcription of specific genes Transcription initiation complex: the completed assembly of transcription factors and RNA polymerase bound to the promoter TATA box: a promoter DNA sequence crucial in forming the transcription initiation complex 5' cap: the 5' end of a pre-mRNA molecule modified by the addition of a cap of guanine nucelotide Poly-A tail: the modified end of the 3' end of an mRNA molecule consisting of the addition of some 50 to 250 adenine nucleotides RNA splicing: the removal of noncoding portions (introns) of the RNA molecule after initial synthesis Intron: a noncoding, intervening sequence within a eukaryotic gene Exon: a coding region of a eukaryotic gene; seperated form each other by introns Spliceosome: a complex assembly that interacts with the ends of an RNA intron in splicing RA, releasing the intron and joining the two adjacent exons Ribozyme: an enzyme-like RNA molecule that catalyzes reactions during RNA splicing

Alternative RNA splicing: a type of regulation at the RNA-processing level in which different mRNA molecules are produced from the same primary transcript Domain: an independently folding part of a protein Transfer RNA (tRNA): an RNA molecule that functions as an interpreter between nucleic acid and protein language by picking up specific amino acids and recognizing the appropriate codons in the mRNA Anticodon: a specialized base triplet at one end of a tRNA molecule that recognizesa particular complemetary codon on an mRNA molecule Aminoacyl-tRNA synthetase: an enzyme that joins each amino acid to the correct tRNA Ribosomal RNA (rRNA): the most abundant type of RNA, which together with proteins forms the structure of ribosomes Wobble: a violation of the base-pairing rules in that the third nucleotide (5' end) of a tRNA anticodon can form hydrogen bonds with more than one kind of base in the third position (3' end) of a codon P (peptidyl tRNA) site: one of a ribosome's three binding sites for tRNA during transcription; holds the tRNA carrying the growing polypeptide chain A (aminoacyl tRNA0 site: one of a ribosome's three binding sites for tRNA during transcription; holds the tRNA carrying the next amino acid to be added to the polypeptide chain E (exit) site: one of a ribosome's three binding sites for tRNA during transcription; places where discharged tRNAs leave the ribosome Polyribosome (polysome): an aggregation of several ribosomes attached to one messenger RNA molecule Signal peptide: a strech of amino acids on a polypeptide that targets a protein to a specific destination in a eukaryotic cell Signal-recognition particle (SRP): a protein-RNA complex that recognizes a signal peptide as it emerges from the ribosome Mutation: a change in the DNA of a gene, ultimately creating genetic diversity Point mutation: a change in a gene at a sinle nucleotide pair Base-pair substitution: a type oof point mutation; the replacement of one nucleotide and its partnerin the complementary DNA strand by another pair of nucleotides Missense mutation: the most comon type of mutation; a base-pair substitution in which the new codon makes sense in that it still codes for an amino acid Nonsense mutation: a mutation that changes an amino acid codon to one of the three stop codons, resulting in a shorter and usually nonfunctional protein Insertion: a mutation involving the addition of one or more nucleotide pairs to a gene Deletion: a mutational loss of one or more nucleotide pairs from a gene Frameshift mutation: a mutation occuring when the number of nucleotides inserted or deleted is not a multiple of three, resulting in the improper grouping of the following nucleotides into codons Mutagen: a chemical or physical agent that interacts with DNA and causes a mutation