Hum_Mol_Genet_Lecture_7_March_6_2012

Hum_Mol_Genet_Lecture_7_March_6_2012 - Instability:...

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Instability: Mutation and DNA repair Mutations DNA repair
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Instability: Mutation and DNA repair Substitution rates vary throughout the genome.
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Instability: Mutation and DNA repair Different mutation rates in primates and rodents Species Pair Sites Percent Divergence Substitution rate (x 10 9 ) Human/Chimp 921 1.9 1.3 (7 myr) Human/Old world monkey 998 11.0 2.2 (25 myr) Mouse/rat 3886 23.7 7.9 (15 myr)
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Instability: Mutation and DNA repair Higher mutation rates in males Greater number of cell divisions
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Instability: Mutation and DNA repair Sex-specific differences in mutation rates Gene Mutation Ratio of male/female mutations NF1 Point 4.5 VHL Point 1.3 RB Point 8.5 ZFX/ZFY Mutations in last intron 6
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Instability: Mutation and DNA repair Mechanism of mutation Simple sequence repeats and strand slippage
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Instability: Mutation and DNA repair Mechanism of mutation Homologous equal crossover yields fusion genes.
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Instability: Mutation and DNA repair Mechanism of mutation Unequal crossover causes insertions and deletions.
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Instability: Mutation and DNA repair Mechanism of mutation Unequal crossover in a tandem repeat array can result in sequence homogenization.
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Instability: Mutation and DNA repair Mechanism of mutation Tandem gene duplication by unequal crossover or sister chromatid exchange facilitated by short interspersed elements.
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Instability: Mutation and DNA repair Mechanism of mutation Gene conversion Non reciprocal sequence exchange between allelic or nonallelic genes.
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This note was uploaded on 01/06/2012 for the course BIOL 4753 taught by Professor Batzer,m during the Fall '08 term at LSU.

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Hum_Mol_Genet_Lecture_7_March_6_2012 - Instability:...

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