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Genomes Mutation and Damage Continued.docx

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BIOL 3150

• Point mutations in protein coding genes could have several effects on protein sequence o Silent mutation – no change to amino acid o Missense mutation – amino acid change o Nonsense – stop o Readthrough – bypass stop codon • Deletion or mutation of one or two mucleotides results in frameshift mutations that would likely alter protein sequences more than a three • Mutations within the promoter region could affect transcriptional regulation of that gene, mutations in a promote region have less affect on a gene than those in ORF o Deletion of regulatory gene = uncontrolled transcription o Deletion of promoter region = no transcription • Effects of mutations on microorganisms could be assessed genetically by a number of ways o Prototrophs: can grow on minimal media o Auxotrops: mutations that prevent from growing in absence of certain nutrient on minimal media (replica plating) o Conditional mutants: can only grow under certain permissive conditions o Inhibitor resistant mutants – ability to grow in presence of a toxic agents o Regulatory mutants: altered regulatory expression of a gene • Genetic analysis can determine the effects of mutation on functions of a gene on multicellular organisms o Loss of function: loss of activity of a gene o Gain of function: confer of an abnormal activity to a gene (overexpressed oncogene) o Delayed onset: alters the temporal expression of a gene o Nonpenetrance: other genes could compensate for the mutant gene activity • No
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