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Inference and analysis of population-specific fine-scale recombination maps across 26 diverse human populations

机译:推论和分析26个不同人群的特定人群的精细重组图

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摘要

Fine-scale rates of meiotic recombination vary by orders of magnitude across the genome and differ between species and even populations. Studying cross-population differences has been stymied by the confounding effects of demographic history. To address this problem, we developed a demography-aware method to infer fine-scale recombination rates and applied it to 26 diverse human populations, inferring population-specific recombination maps. These maps recapitulate many aspects of the history of these populations including signatures of the trans-Atlantic slave trade and the Iberian colonization of the Americas. We also investigated modulators of the local recombination rate, finding further evidence that Polycomb group proteins and the trimethylation of H3K27 elevate recombination rates. Further differences in the recombination landscape across the genome and between populations are driven by variation in the gene that encodes the DNA binding protein PRDM9, and we quantify the weak effect of meiotic drive acting to remove its binding sites.
机译:减数分裂重组的精细比例速率在整个基因组中变化数量级,并且在物种甚至种群之间也不同。人口历史的混杂影响阻碍了研究跨人群差异。为了解决此问题,我们开发了一种可识别人口规模的重组率的人口统计学方法,并将其应用于26个不同的人群,从而推断出特定于人群的重组图。这些地图概括了这些人口历史的许多方面,包括跨大西洋的奴隶贸易和美洲的伊比利亚殖民地的签名。我们还研究了局部重组率的调节剂,发现进一步的证据表明,Polycomb组蛋白和H3K27的三甲基化提高了重组率。整个基因组之间和种群之间的重组格局的进一步差异是由编码DNA结合蛋白PRDM9的基因的变异驱动的,我们量化了减数分裂驱动作用的弱作用,以消除其结合位点。

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