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Chunk #49 — Results — Mutation, recombination and natural selection — Positive selection and the distribution of genetic variation among populations

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A map of human genome variation from population-scale sequencing.
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GATA box null mutation upstream of DARC41, the Duffy O allele leading to vivax malaria resistance) and 72 between CHB+JPT and YRI, including 24 around the exocyst complex component gene EXOC6B; see Supplementary Table 7 for a complete list. Second, it provides new candidates for selected variants, genes and pathways. For example, we identified 139 nonsynonymous (NS) variants showing large allele frequency differences (at least 0.8) between populations (Supplementary Table 8), including at least two genes involved in meiotic recombination, FANCA (9th most extreme NS SNP in CEU vs CHB+JPT) and TEX15 (13th most extreme NS SNP in CEU vs YRI, and 26th most extreme NS SNP in CHB+JPT vs YRI). Because we are finding almost all common variants in each population, these lists should contain the vast majority of the near fixed differences among these populations. Finally, it enables fine mapping of the signals of local selective sweeps (Supplementary Fig. 14) and a characterisation of the footprint of such events on local variation. For example, we find that the signal of population differentiation around high differentiation genic SNPs is typically less than 0.2 cM (Fig. 5d), suggesting that the signal of local adaptation should typically be resolved to one