Vernot Benjamin, Akey Joshua M
Department of Genome Sciences, University of Washington, 3720 15(th) Avenue NE, PO Box 355065, Seattle WA 98195-5065, USA.
Am J Hum Genet. 2015 Mar 5;96(3):448-53. doi: 10.1016/j.ajhg.2015.01.006. Epub 2015 Feb 12.
Recent analyses have found that a substantial amount of the Neandertal genome persists in the genomes of contemporary non-African individuals. East Asians have, on average, higher levels of Neandertal ancestry than do Europeans, which might be due to differences in the efficiency of purifying selection, an additional pulse of introgression into East Asians, or other unexplored scenarios. To better define the scope of plausible models of archaic admixture between Neandertals and anatomically modern humans, we analyzed patterns of introgressed sequence in whole-genome data of 379 Europeans and 286 East Asians. We found that inferences of demographic history restricted to neutrally evolving genomic regions allowed a simple one-pulse model to be robustly rejected, suggesting that differences in selection cannot explain the differences in Neandertal ancestry. We show that two additional demographic models, involving either a second pulse of Neandertal gene flow into the ancestors of East Asians or a dilution of Neandertal lineages in Europeans by admixture with an unknown ancestral population, are consistent with the data. Thus, the history of admixture between modern humans and Neandertals is most likely more complex than previously thought.
最近的分析发现,相当一部分尼安德特人的基因组存在于当代非非洲人的基因组中。平均而言,东亚人的尼安德特人血统水平高于欧洲人,这可能是由于净化选择效率的差异、对东亚人额外的基因渗入脉冲,或其他未探索的情况。为了更好地界定尼安德特人与解剖学意义上的现代人类之间古老基因混合的合理模型范围,我们分析了379名欧洲人和286名东亚人的全基因组数据中的基因渗入序列模式。我们发现,仅限于中性进化基因组区域的人口历史推断有力地否定了简单的单脉冲模型,这表明选择差异无法解释尼安德特人血统的差异。我们表明,另外两种人口模型与数据一致,这两种模型要么涉及尼安德特人基因再次流入东亚人的祖先,要么涉及欧洲人中的尼安德特人谱系因与未知祖先群体混合而被稀释。因此,现代人类与尼安德特人之间的基因混合历史很可能比之前认为的更为复杂。