%0 Journal Article %J Mol Biol Evol %D 2014 %T Neanderthal introgression at chromosome 3p21.31 was under positive natural selection in East Asians. %A Ding, Qiliang %A Hu, Ya %A Xu, Shuhua %A Wang, Jiucun %A Jin, Li %K Adaptation, Physiological %K Alleles %K Animals %K Asian Continental Ancestry Group %K Chromosomes, Human, Pair 3 %K Far East %K Genetic Variation %K Geography %K Haplotypes %K Humans %K Linkage Disequilibrium %K Models, Genetic %K Neanderthals %K Pan troglodytes %K Phylogeny %K Polymorphism, Single Nucleotide %K Recombination, Genetic %K Selection, Genetic %K Time Factors %X

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.

%B Mol Biol Evol %V 31 %P 683-95 %8 2014 Mar %G eng %U http://www.ncbi.nlm.nih.gov/pubmed/24336922 %N 3 %1

http://www.ncbi.nlm.nih.gov/pubmed/24336922?dopt=Abstract

%R 10.1093/molbev/mst260