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Gene Interaction_CH6
Genetics
| Question | Answer |
|---|---|
| multiple alleles/ allelic series | the known mutant alleles of a gene and its wild-type allele |
| dominance | a manifestation of how the alleles of a single gene interact in a heterozygote |
| full/complete dominance | the expression of an allele when only one copy is present (heterozygote) |
| haplosufficient | one dose of a wild-type allele is enough to supplement the defective allele and achieve normal levels of function (PAH gene in PKU) |
| haploinsufficent | one dose of wild-type allele is not enough to supplement the defective allele and achieve normal levels of function |
| null mutation | produces a nonfunctional protein |
| dominant negative | polypeptides with this type of mutation act as "spoilers" or "rogues" |
| homodimeric protein | a protein composed of two units of the same type |
| collagen | connective-tissue protein formed of three monomers intertwined (a trimer) |
| antigen | a cell-surface molecule that can be recognized by the immune system |
| incomplete dominance | the occurence of an intermediate phenotype |
| codominance | the expression of both alleles of a heterozygote |
| lethal allele | an allele that is capable of causing the death of an organism |
| pleiotropic | describes any allele that affects several properties of an organism |
| temperature-sensitive (ts) mutation | caused by exposure to a restrictive temperature that causes the protein to be prone to twisting and bending its shape causing it to take an inactive conformation |
| restrictive temperature | produces mutant phenotypes |
| permissive temperature | produces wild type phenotypes |
| one-gene-one-polypeptide hypothesis | all proteins whether or not enzymes are encoded by genes |
| functional RNA | transfer RNAs, ribosomal RNAs, and small cytoplasmic RNAs |
| signal-transduction pathway | a chain of complex signals from the environment to the genome from one gene to another |
| developmental pathways | comprise the steps by which a zygote becomes an adult organism |
| double mutant | paired mutations (combined to test for gene interaction) |
| complementation test | (in a diploid) this is performed by intercrossing two individuals that are homozygous for different recessive mutations and then observving whether the progeny have the wild-type phenotype |
| complementation | the production of a wild-type phenotype when two haploid genomes bearing different recessive mutations are united in the same cell |
| heterokaryon | a result of fusion (an alternative way of complementation in haploid organisms) - the one cell that the nuclei of two haploid strains fuse into |
| epistasis | a situation in which a double mutant shows the phenotype of one mutation but not the other |
| epistatic | describes the mutation that overrides another |
| hypostatic | describes the mutation that was overridden |
| suppressor | mutant allele of a gene that reverses the effect of a mutation of another gene, resulting in a wild-type or near-wild type phenotype |
| revertants | wild-types that arise from reversals of the original mutational event |
| nonsense suppressors | mutations in the tRNA genes resulting in a an anticodon that will bind to a premature stop codon within a mutant coding sequence |
| modifier mutation | this is at a second locus and changes the degree of expression of a mutated gene at the first locus |
| sythetic lethals | crossing of two viable single mutants produces lethal double mutants |
| 100 percent penetrant | can distinguish wild-type and mutant genotypes with almost 100% certainty |
| incomplete penetrance | not every individual with the genotype expresses the corresponding phenotype |
| penetrance | % of individuals with a given allele who exhibit the phenotype associated with the allele |
| expressivity | measure the degree to which a given allele is expressed at the phenotypic level; that is this measure the intensity of the phenotype |