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29_Lieb_DNA_Damage

29_Lieb_DNA_Damage - Biology 202-LIEB I Classification of...

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Biology 202-LIEB DNA Damage Page 1 of 2 I. Classification of mutations A. At the DNA level point mutation = the general term for a single base change o transition = purine to purine or pyrimidine to pyrimidine o transversion = purine to pyrimidine or pyrimidine to purine insertions & deletions expansion & contraction of microsatellite repeats chromosome rearrangements; translocations, inversions, deletions (we did not discuss these in this lecture but they were mentioned in earlier lectures). B. Effects on polypeptide missense = point mutation that results in amino acid substitution neutral = similar amino acid ( e.g. D for E), no effect on protein function silent = different codon, same amino acid, therefore no change to polypeptide nonsense = point mutation that creates premature stop codon frameshift = insertion of deletion that shifts the reading frame C. Genetic classes of mutation (these concepts were also introduced in the first half of the course) loss of function – usually recessive (since the remaining allele still has function) o null or amorphic
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