11.29.2011 - Lecture 23 DNA Mutation Repair and Recombination Pt I(Ch 16 The Phenotypic Consequences of DNA Mutations Point Mutation Alteration of

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Lecture 23 November 29, 2011 DNA Mutation, Repair, and Recombination Pt. I (Ch. 16)
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The Phenotypic Consequences of DNA Mutations: Point Mutation: Alteration of a single base pair or small number of adjacent base pairs 1) Base substitutions 2) Base insertions or deletions Two main types of point mutations
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Base Substitutions: Purines = A and G; Pyrimidines = C and T Transition: replacement of a purine w/ a purine, or pyrimidine w/ a pyrimidine Transversion: replacement of a purine w/ a pyrimidine, or pyrimidine w/ a purine
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Point Mutations Within Gene Coding Sequences: WT: ACA AAG AGA GGT T K R G
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WT: ACA AAG AGA GGT T K R G Insertion-Deletion Mutations ( indel mutations):
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Errors in DNA Replication: Replication slippage (indels)
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Spontaneous DNA Damage: Loss of a purine base (depurination); interruption of bond between sugar and N base (apurinic site); 10,000 purines lost from DNA in a typical mammalian cell over 20 hour cell cycle Loss of amino group from cytosine yields Uracil (after replication, C to T transition Oxidative damage (from H2O2, OH radicals)
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Trinucleotide Repeat Expansion: FMR-1 in Fragile X Syndrome
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Replication Slippage: Repeat Expansion Poly-Q Diseases: Alzheimer’s and other neuro- degenerative disorders
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This note was uploaded on 01/19/2012 for the course BIOLOGY 305 taught by Professor Kumar during the Fall '11 term at University of Michigan.

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11.29.2011 - Lecture 23 DNA Mutation Repair and Recombination Pt I(Ch 16 The Phenotypic Consequences of DNA Mutations Point Mutation Alteration of

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