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    Instability Mutation and DNA repair

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    1 : Instability: Mutation and DNA repair Mutations DNA repair
    2 : Instability: Mutation and DNA repair Substitution rates vary throughout the genome.
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    4 : Instability: Mutation and DNA repair Different mutation rates in primates and rodents Species Pair Sites Percent Divergence Substitution rate (x 109) 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)
    5 : Instability: Mutation and DNA repair Higher mutation rates in males Greater number of cell divisions
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    7 : 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
    8 : Instability: Mutation and DNA repair Mechanism of mutation Simple sequence repeats and strand slippage
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    11 : Instability: Mutation and DNA repair Mechanism of mutation Homologous equal crossover yields fusion genes.
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    13 : Instability: Mutation and DNA repair Mechanism of mutation Unequal crossover causes insertions and deletions.
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    15 : Instability: Mutation and DNA repair Mechanism of mutation Unequal crossover in a tandem repeat array can result in sequence homogenization.
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    17 : 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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    19 : Instability: Mutation and DNA repair Mechanism of mutation Gene conversion Non reciprocal sequence exchange between allelic or nonallelic genes.
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    23 : Instability: Mutation and DNA repair Mechanism of mutation Splicing mutations Intron retention Exon skipping Activation of cryptic splice sites
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    26 : Instability: Mutation and DNA repair Mechanism of mutation Short tandem repeats are deletion insertion hotspots.
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    28 : Instability: Mutation and DNA repair Mechanism of mutation Spinocerebellar ataxia (SCA1) triplet repeat expansion.
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    30 : Instability: Mutation and DNA repair Mobile elements and mutations Alu element Insertion events Recombination events
    31 : Reverse transcription and insertion 1. Usually a single ‘master’ copy 2. Pol III transcription to an RNA intermediate 3. Target primed reverse transcription (TPRT) – enzymatic machinery provided by LINEs
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    33 : What are SINEs? 1. Interspersed Elements 2. 70 - 300 Bases in Length 3. Very High Copy Numbers (>100,000 Copies/Genome)
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    41 : Instability: Mutation and DNA repair DNA repair Photodimer DNA glycosylase /AP endonucleases E-coli mismatch repair Human mismatch repair
    42 : Instability: Mutation and DNA repair DNA repair Photodimer
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    44 : Instability: Mutation and DNA repair DNA repair DNA glycosylase /AP endonucleases
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    46 : Instability: Mutation and DNA repair DNA repair E-coli mismatch repair Human mismatch repair
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    49 : Instability: Mutation and DNA repair DNA repair Human mismatch repair
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