title: Neanderthal introgression at chromosome 3p21.31 was under positive natural selection in East Asians.
abstract: 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.
authors: State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors: Qiliang
authors: Q
authors: Ding
authors: Ya
authors: Y
authors: Hu
authors: Shuhua
authors: S
authors: Xu
authors: Jiucun
authors: J
authors: Wang
authors: Li
authors: L
authors: Jin
mesh_terms: D000222:Adaptation, Physiological / Q000235:genetics; D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005202:Asia, Eastern; D014644:Genetic Variation; D005843:Geography; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008957:Models, Genetic; D059125:Neanderthals / Q000235:genetics*; D002679:Pan troglodytes / Q000235:genetics; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics; D012641:Selection, Genetic; D013997:Time Factors
keywords: East Asians; HYAL; Neanderthals; introgression; positive selection