Lec 16 mutation repair recombination

Lec 16 mutation repair recombination - Mutation, DNA Repair...

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1 Mutation, DNA Repair and Recombination & General Properties: spontaneous vs induced; germline vs. somatic & Chemical basis of spontaneous mutation & Mutagens: chemical and radiation & Measuring mutation rates & DNA Repair & Recombination
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2 Lederberg: Mutations arise spontaneously prior to selection. 1. Grow E. coli on media lacking the antibiotic streptomycin 2. Replica print onto plates containing streptomycin press colonies onto velvet pattern of colonies on velvet print onto plate with streptomycin rare streptomycin mutant colony derived from pre-existing mutant
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3 somatic mutation germline mutation SOMATIC VS. GERMLINE MUTATIONS heredity succession of individuals
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4 N N N N C C C C C C C C C N N Spontaneous mutations: tautomeric shifts alter base pairing cytosine (amino) guanine (keto) N N N N C C C C C C C C C N N thymine (keto) guanine (enol) H N N H O O O H O H H N H H H O H H H ribose H CH 3 H ribose ribose ribose H δ + δ δ + δ δ δ + δ + δ + δ + δ δ δ
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5 Spontaneous mutation from tautomeric shift A C G T C T G C A G .. … .. . .. A C G T C T G T A G .. … .. . .. A C G T C T G C A G .. … .. . .. A C G T C T G C A G .. … .. . .. A C A T C T G T A G .. … .. .. . .. A C G T C T G C A G .. … .. . .. A C G T C T G C A G .. … .. . .. G T C A . A C T G .. … mutant wild-type wild-type wild-type
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6 Indel mutations result in frameshifts
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7 Trinucleotide repeats in the FMR-1 gene hinder transcription Figure 15-12
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8 Slipped mispairing causes repeat expansion Figure 15-13
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9 Markers for genetic mapping and genotyping in diagnosis and forensic medicine. Single nucleotide polymorphisms (SNPs) Detected by sequencing, PCR, or restriction fragment polymorphism About 3 million SNPs between any two human genomes, >10 million total Est. ~160 new SNPs/individual; 1-10 deleterious (2000-4000 total deleterious load) Microsatellites, or simple sequence repeats (SSRs) Short repeats such as (CA) n that rapidly expand and contractdue to slippage of DNA polymerase. Repeated 15-100 times at each site. About 100,000 microsatellite sites in the human genome Detected by PCR Minisatellites, or variable number tandem repeats (VNTRs) Tandem repeats of sequences 10-40 bp in length Repeated 100-500 times at each site. About 30,000 minisatellites in the human genome. VNTR length is highly variable due to crossing-over between misaligned pairs Detected by PCR or Southern blotting DNA polymorphisms & defined as > 1% frequency in a population
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10 Identifying SNPs by hybridization with allele-specific oligonucleotides A T synthetic DNA immobilized on microarray
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Lec 16 mutation repair recombination - Mutation, DNA Repair...

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