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Chunk #51 — Results — Mutation, recombination and natural selection — The effect of recombination on local sequence evolution

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A map of human genome variation from population-scale sequencing.
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We estimated a fine-scale genetic map from the phased low coverage genotypes. Recombination hotspots were narrower than previously estimated4 (mean hotspot width of 2.3 kb compared to 5.5 kb in HapMap II; Fig. 6a), although, unexpectedly, the estimated average peak recombination rate in hotspots is lower in YRI (13 cM/Mb) than in CEU and CHB+JPT (20cM/Mb). In addition, crossover activity is less concentrated in the genome in YRI, with 70% of recombination occurring in 10% of the sequence rather than 80% of the recombination for CEU and CHB+JPT (Fig. 6b). A possible biological basis for these differences is that PRDM9, which binds a DNA motif strongly enriched in hotspots and influences the activity of LD-defined hotspots42-45 , shows length variation in its DNA binding zinc fingers within populations, and substantial differentiation between African and non-African populations, with a greater allelic diversity in Africa45. This could mean greater diversity of hotspot locations within Africa and therefore a less concentrated picture in this data set of recombination and lower usage of LD-defined hotspots (which require evidence in at least two populations and therefore will not reflect hotspots present only in Africa).