Department of Ecology and Evolutionary Biology, University of California, Los Angeles, California, USA.
Nat Genet. 2011 Jul 20;43(9):847-53. doi: 10.1038/ng.894.
Studies of recombination and how it varies depend crucially on accurate recombination maps. We propose a new approach for constructing high-resolution maps of relative recombination rates based on the observation of ancestry switch points among admixed individuals. We show the utility of this approach using simulations and by applying it to SNP genotype data from a sample of 2,565 African Americans and 299 African Caribbeans and detecting several hundred thousand recombination events. Comparison of the inferred map with high-resolution maps from non-admixed populations provides evidence of fine-scale differentiation in recombination rates between populations. Overall, the admixed map is well predicted by the average proportion of admixture and the recombination rate estimates from the source populations. The exceptions to this are in areas surrounding known large chromosomal structural variants, specifically inversions. These results suggest that outside of structurally variable regions, admixture does not substantially disrupt the factors controlling recombination rates in humans.
研究重组及其变化方式在很大程度上取决于准确的重组图谱。我们提出了一种新的方法,基于混合个体中祖先转换点的观察,构建相对重组率的高分辨率图谱。我们通过模拟和应用于来自 2565 名非裔美国人和 299 名非洲加勒比人的 SNP 基因型数据来展示这种方法的实用性,检测了几十万次重组事件。推断的图谱与非混合人群的高分辨率图谱进行比较,提供了人群之间重组率精细差异的证据。总体而言,混合图谱很好地预测了来自混合人群的平均混合比例和重组率估计。除了结构变异区域外,混合并没有显著破坏控制人类重组率的因素。