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Mol Biol Evol. 2014 Mar;31(3):683-95. doi: 10.1093/molbev/mst260. Epub 2013 Dec 13.

Neanderthal introgression at chromosome 3p21.31 was under positive natural selection in East Asians.

Author information

1
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

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.

KEYWORDS:

East Asians; HYAL; Neanderthals; introgression; positive selection

PMID:
24336922
DOI:
10.1093/molbev/mst260
[Indexed for MEDLINE]

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