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Mol Biol Evol. 2016 May;33(5):1177-87. doi: 10.1093/molbev/msw003. Epub 2016 Jan 6.

A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.

Author information

1
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing, China Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
2
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
3
State Key Laboratory of Membrane Biology, School of Life Sciences, Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
4
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
5
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
6
Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
7
Center for Computational Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
8
College of Life Science, Liaoning Normal University, Dalian, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
9
Department of Urology, First Affiliated Hospital of Kunming Medical University, Kunming, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
10
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Copenhagen, Denmark sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
11
BGI-Shenzhen, Shenzhen, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
12
Geography and Land Management, Royal University of Phnom Penh, Phnom Penh, Kingdom of Cambodia sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
13
Capacity Development Facilitator for Handicap International Federation and Freelance Researcher, Battambang, Kingdom of Cambodia sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
14
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.

Abstract

Skin lightening among Eurasians is thought to have been a convergence occurring independently in Europe and East Asia as an adaptation to high latitude environments. Among Europeans, several genes responsible for such lightening have been found, but the information available for East Asians is much more limited. Here, a genome-wide comparison between dark-skinned Africans and Austro-Asiatic speaking aborigines and light-skinned northern Han Chinese identified the pigmentation gene OCA2, showing unusually deep allelic divergence between these groups. An amino acid substitution (His615Arg) of OCA2 prevalent in most East Asian populations-but absent in Africans and Europeans-was significantly associated with skin lightening among northern Han Chinese. Further transgenic and targeted gene modification analyses of zebrafish and mouse both exhibited the phenotypic effect of the OCA2 variant manifesting decreased melanin production. These results indicate that OCA2 plays an important role in the convergent skin lightening of East Asians during recent human evolution.

KEYWORDS:

East Asians; OCA2; adaptation; natural selection; pigmentation genes; skin lightening

PMID:
26744415
PMCID:
PMC4839214
DOI:
10.1093/molbev/msw003
[Indexed for MEDLINE]
Free PMC Article

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