Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage
Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage
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DOI：
10.1534/genetics.120.303167
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发表时间：
2020-06-01
期刊：
影响因子：
3.3
通讯作者：
Gokcumen, Omer
中科院分区：
文献类型：
--
作者：
Taskent, Ozgur;Lin, Yen Lung;Gokcumen, Omer
尽管对现代和古代基因组的分析表明，尼安德特人为现存人类种群的祖先贡献了遗传物质，但尼安德特人何时何地与现代人种群相互作用仍然令人兴奋……古代人向现存人类种群祖先渗透的时间、范围和基因组效应仍然是过去十年来种群遗传学研究中最令人兴奋的地方之一。几项研究已经显示了尼安德特人、丹尼索瓦人和其他不同人类群体中潜在的其他未知原始人群体的导入事件的群体特异性特征。此外，研究表明，这些导入事件可能导致了现存人类的表型变异，带来了生物医学和进化方面的后果。在这项研究中，我们对欧亚基因组中异常不同的单倍型进行了全面的分析，并表明它们可以追溯到多个导入事件。同时，我们记录了数百个与尼安德特人共享的缺失多态。对其中一个共同缺失的特定位点的分析表明，存在从阿拉泰尼安德特人血统到现存东亚种群祖先的直接导入事件。总体而言，我们的研究与一个新出现的概念是一致的，即不同的尼安德特人群体以特定于群体的方式促成了现存的人类遗传变异。
Although analysis of modern and ancient genomes showed that Neanderthals contributed genetic material to the ancestors of extant human populations, when and where Neanderthals interacted with modern human populations remain exciting...The time, extent, and genomic effect of the introgressions from archaic humans into ancestors of extant human populations remain some of the most exciting venues of population genetics research in the past decade. Several studies have shown population-specific signatures of introgression events from Neanderthals, Denisovans, and potentially other unknown hominin populations in different human groups. Moreover, it was shown that these introgression events may have contributed to phenotypic variation in extant humans, with biomedical and evolutionary consequences. In this study, we present a comprehensive analysis of the unusually divergent haplotypes in the Eurasian genomes and show that they can be traced back to multiple introgression events. In parallel, we document hundreds of deletion polymorphisms shared with Neanderthals. A locus-specific analysis of one such shared deletion suggests the existence of a direct introgression event from the Altai Neanderthal lineage into the ancestors of extant East Asian populations. Overall, our study is in agreement with the emergent notion that various Neanderthal populations contributed to extant human genetic variation in a population-specific manner.