ArticleMolecular biology and evolution2016
A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.
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Article in Molecular biology and evolution, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 59 citations in OpenAlex.
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- Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025Review
- Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia.Communications biology · 2025Article
- Genetic history and biological adaptive landscape of the Tujia people inferred from shared haplotypes and alleles.Human genomics · 2024Article
- Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.PLoS genetics · 2023Article
- Two High-QualityInternational journal of molecular sciences · 2023Article
- Genetic adaptation of skin pigmentation in highland Tibetans.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genomic diversity and post-admixture adaptation in the Uyghurs.National science review · 2022Article
- The distinct morphological phenotypes of Southeast Asian aborigines are shaped by novel mechanisms for adaptation to tropical rainforests.National science review · 2022Article
- The evolution of human skin pigmentation involved the interactions of genetic, environmental, and cultural variables.Pigment cell & melanoma research · 2021Review
- Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.Biology open · 2021Article
- The evolution of skin pigmentation-associated variation in West Eurasia.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Studying human and nonhuman primate evolutionary biology with powerful in vitro and in vivo functional genomics tools.Evolutionary anthropology · 2020Review
- The Evolutionary History of Human Skin Pigmentation.Journal of molecular evolution · 2020Review
- Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure.Clinical, cosmetic and investigational dermatology · 2020Review
- A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.Nature communications · 2019Article
- Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.International journal of molecular sciences · 2018Review
- Adaptation of human skin color in various populations.Hereditas · 2018Review
- Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor.Frontiers in genetics · 2018Article
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Authors and funding
38 authors at 12 institutions in 4 countries.
Zhaohui YangState 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.
Hua ZhongDepartment of Pathology and Immunology, Baylor College of Medicine, Houston, TX sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Jing ChenState 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.
Xiaoming ZhangState 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.
Hui ZhangState 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.
Xin LuoState 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.
Shuhua XuMax 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.
Hua ChenCenter 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.
Dongsheng LuMax 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.
Yinglun HanCollege of Life Science, Liaoning Normal University, Dalian, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Jinkun LiDepartment of Urology, First Affiliated Hospital of Kunming Medical University, Kunming, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Lijie FuDepartment of Urology, First Affiliated Hospital of Kunming Medical University, Kunming, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Xuebin QiState 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.
Yi PengState 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.
Kun XiangState 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.
Qiang LinState 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.
Yan GuoState 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.
Ming LiState 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.
Xiangyu CaoState 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.
Yanfeng ZhangState 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.
Shiyu LiaoState 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.
Yingmei PengState 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.
Lin ZhangState 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.
Xiaosen GuoBGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Copenhagen, Denmark sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Shanshan DongBGI-Shenzhen, Shenzhen, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Fan LiangBGI-Shenzhen, Shenzhen, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Jun WangBGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Copenhagen, Denmark sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Andrew WilldenState 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.
Hong Seang AunGeography 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.
Bun SereyGeography 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.
Tuot SovannaryGeography 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.
Long BunnathGeography 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.
Ham SamnomCapacity 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.
Graeme MardonDepartment of Pathology and Immunology, Baylor College of Medicine, Houston, TX sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Qingwei LiCollege of Life Science, Liaoning Normal University, Dalian, China sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Anming MengState 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.
Hong ShiState 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.
Bing SuState 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.
Chinese Academy of Sciences · CNKunming Institute of Zoology · CNRoyal University of Phnom Penh · KHCenter for Life Sciences · CNBaylor College of Medicine · USBGI Group (China) · CNLiaoning Normal University · CNUniversity of Copenhagen · DKFirst Affiliated Hospital of Kunming Medical University · CNKunming Medical University · CNShanghai Institutes for Biological Sciences · CNUniversity of Chinese Academy of Sciences · CN
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
AdolescentAllelesAmino Acid SubstitutionAsian PeopleBiological EvolutionBlack PeopleChildEthnicityEvolution, MolecularFemaleGene FrequencyGenetic Association StudiesGenetics, PopulationGenetic VariationHaplotypesHumansMembrane Transport ProteinsOCA2 protein, humanadaptationEast Asiansnatural selectionOCA2pigmentation genesskin lightening
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