State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Mol Biol Evol. 2014 Mar;31(3):683-95. doi: 10.1093/molbev/mst260. Epub 2013 Dec 13.
Studies of the Neanderthal and Denisovan genomes demonstrate archaic hominin introgression in Eurasians. Here, we present evidence of Neanderthal introgression within the chromosome 3p21.31 region, occurring with a high frequency in East Asians (ranging from 49.4% to 66.5%) and at a low frequency in Europeans. We also detected a signal of strong positive selection in this region only in East Asians. Our data indicate that likely candidate targets of selection include rs12488302-T and its associated alleles--among which four are nonsynonymous, including rs35455589-G in HYAL2, a gene related to the cellular response to ultraviolet-B irradiation. Furthermore, suggestive evidence supports latitude-dependent selection, implicating a role of ultraviolet-B. Interestingly, the distribution of rs35455589-G suggests that this allele was lost during the exodus of ancestors of modern Eurasians from Africa and reintroduced to Eurasians from Neanderthals.
对尼安德特人和丹尼索瓦人基因组的研究表明，古人类在欧亚人群中发生了基因渗入。在这里，我们提供了证据表明，在东亚人群中，尼安德特人的基因渗入发生在染色体 3p21.31 区域，频率较高（范围为 49.4%至 66.5%），而在欧洲人群中频率较低。我们还仅在东亚人群中检测到该区域存在强烈的正选择信号。我们的数据表明，选择的可能候选目标包括 rs12488302-T 及其相关等位基因，其中 4 个是非同义的，包括 HYAL2 中的 rs35455589-G，该基因与细胞对紫外线-B 辐射的反应有关。此外，有迹象表明，选择与纬度有关，暗示了紫外线-B 的作用。有趣的是，rs35455589-G 的分布表明，该等位基因在现代欧亚人祖先从非洲迁徙时丢失，并从尼安德特人重新引入到欧亚人。
