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Nature:非洲裔美国人的基因图谱

基因图估测基因组中每个点上发生交叉的概率,这是研究不同人种之间差异情况的重要工具。现在,研究人员利用18000名非洲裔美国人的数据构建一个基因图。将该基因图与欧洲人基因图做比较,显示了非洲裔美国人中活跃、但大部分欧洲人中不活跃的重组热点超过2000个。。一个“17碱基对DNA序列”在这些热点上被突显出来,它是基因组重排致病性的一个隐患。

 

英文摘要

The landscape of recombination in African Americans

Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans. At intervals of more than three megabases it is nearly identical to a map built in Europeans. At finer scales it differs significantly, and we identify about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans. The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value < 10−245). We identify a 17-base-pair DNA sequence motif that is enriched in these hotspots, and is an excellent match to the predicted binding target of PRDM9 alleles common in West Africans and rare in Europeans. Sites of this motif are predicted to be risk loci for disease-causing genomic rearrangements in individuals carrying these alleles. More generally, this map provides a resource for research in human genetic variation and evolution.

 

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