Reintroduction of a Homocysteine Level-Associated Allele into East Asians by Neanderthal Introgression

Mol Biol Evol. 2015 Dec;32(12):3108-13. doi: 10.1093/molbev/msv176. Epub 2015 Sep 21.

Reintroduction of a Homocysteine Level-Associated Allele into East

 Asians by Neanderthal Introgression

Hu Y1, Ding Q2, He Y3, Xu S3, Jin L4.

Source

1State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai, China.

Abstract

In this study, we present an analysis of Neanderthal introgression at the dipeptidase 1 gene, DPEP1. A Neanderthal origin for the putative introgressive haplotypes was demonstrated using an established three-step approach. This introgression was under positive natural selection, reached a frequency of >50%, and introduced a homocysteine level- and pigmentation-associated allele (rs460879-T) into East Asians. However, the same allele was also found in non-East Asians, but not from Neanderthal introgression. It is likely that rs460879-T was lost in East Asians and was reintroduced subsequently through Neanderthal introgression. Our findings suggest that Neanderthal introgression could reintroduce an important previously existing allele into populations where the allele had been lost. This study sheds new light on understanding the contribution ofNeanderthal introgression to the adaptation of non-Africans.

文章链接:http://mbe.oxfordjournals.org/content/32/12/3108.long