title: Reintroduction of a Homocysteine Level-Associated Allele into East Asians by Neanderthal Introgression.
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 of Neanderthal introgression to the adaptation of non-Africans.
authors.affiliation: State 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.
authors.forename: Ya
authors.initials: Y
authors.lastname: Hu
authors.affiliation: State 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 Department of Molecular Biology and Genetics, Cornell University.
authors.forename: Qiliang
authors.initials: Q
authors.lastname: Ding
authors.affiliation: CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai, China.
authors.forename: Yungang
authors.initials: Y
authors.lastname: He
authors.affiliation: CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai, China.
authors.forename: Shuhua
authors.initials: S
authors.lastname: Xu
authors.affiliation: State 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 lijin@fudan.edu.cn.
authors.forename: Li
authors.initials: L
authors.lastname: Jin
mesh_terms: D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics*; D004150:Dipeptidases / Q000235:genetics*; D019143:Evolution, Molecular; D058851:GPI-Linked Proteins / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006239:Haplotypes; D006710:Homocysteine / Q000235:genetics*; D006801:Humans; D059125:Neanderthals / Q000235:genetics*; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic
chemical_list: D058851:GPI-Linked Proteins; D006710:Homocysteine; D004150:Dipeptidases; C549872:dipeptidase 1
keywords: DPEP1; Neanderthal; archaic introgression; pigmentation; plasma homocysteine level; positive selection