Term
| What DNA is inherited as recombining haplotypes? |
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Definition
| Everything but mtDNA and the Y chromosome |
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Term
| What does 5 methyl C at CG sequences promote? |
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Definition
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Term
| How can germline mutations be measured in humans? |
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Definition
| New mutant genetic diseases, new mutations at unstable loci, and high throughput sequencing |
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Term
| Why is Apert's syndrome more common in the children of older men? |
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Definition
| Clonal expansion of the gene, and mutant germ cells have dominant selective advantage |
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Term
| What is the main variable in the number of de novo mutations per person? |
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Definition
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Term
| In what three areas can germline mutations arise? |
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Definition
Embryonic - somatic mutations and germline mosaicism
Primordial germ cells - germline mosaicism
Spermatogenesis |
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Term
| How is a double strand break resolved via a holiday junction? |
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Definition
| A resected DNA end pairs with homologous DNA to generate a D-loop structure that provides a 3′ end for DNA synthesis (gap filling). Capture of the second end followed by more DNA synthesis lead to the formation of DNA intermediates, in which the interacting DNAs are joined by two HJs, before resolution as a crossover or conversion. |
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Term
| What are the methods for looking at germline recombination in humans? |
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Definition
Pedigree analysis
Single gamete analysis - isolate and sequence individual sperm - compare with parental haplotypes - switchpoints show crossovers
Allelic association - LD between loci
Sperm DNA typing - use allele specific PCR to recover rare recombinant molecules from bulk sperm DNA |
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Term
| Which areas are known for having high or low recombination in humans |
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Definition
Centromeric-generally low
Subtelomeric -generally high |
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Term
| What is TAP2 significant for? |
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Definition
| Apparent clustering of crossover in second intron - little LD (possible recombination hotspot) |
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Term
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Definition
| PRDM9 is responsible for positioning recombination hotspots during meiosis by binding a DNA sequence motif encoded in its zinc finger domain. |
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