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Research Article

Genetic Architecture of Skin and Eye Color in an African-European Admixed Population

  • Sandra Beleza mail,

    sbeleza@stanford.edu (SB); gbarsh@hudsonalpha.org (GSB)

    Affiliations: Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America, Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal

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  • Nicholas A. Johnson,

    Affiliation: Department of Statistics, Stanford University, Stanford, California, United States of America

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  • Sophie I. Candille,

    Affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America

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  • Devin M. Absher,

    Affiliation: HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America

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  • Marc A. Coram,

    Affiliation: Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, United States of America

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  • Jailson Lopes,

    Affiliations: Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal, Centro de Investigação em Biodiversidade e Recursos Genéticos (CIBIO), Vairão, Portugal, Universidade de Cabo Verde (Uni-CV), Praia, Santiago, Cabo Verde

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  • Joana Campos,

    Affiliation: Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal

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  • Isabel Inês Araújo,

    Affiliation: Universidade de Cabo Verde (Uni-CV), Praia, Santiago, Cabo Verde

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  • Tovi M. Anderson,

    Affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America

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  • Bjarni J. Vilhjálmsson,

    Affiliation: Gregor Mendel Institute, Austrian Academy of Sciences, Vienna, Austria

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  • Magnus Nordborg,

    Affiliation: Gregor Mendel Institute, Austrian Academy of Sciences, Vienna, Austria

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  • António Correia e Silva,

    Affiliation: Universidade de Cabo Verde (Uni-CV), Praia, Santiago, Cabo Verde

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  • Mark D. Shriver,

    Affiliation: Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania, United States of America

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  • Jorge Rocha,

    Affiliations: Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal, Centro de Investigação em Biodiversidade e Recursos Genéticos (CIBIO), Vairão, Portugal, Departamento de Biologia, Faculdade de Ciências da Universidade do Porto, Porto, Portugal

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  • Gregory S. Barsh equal contributor mail,

    equal contributor Contributed equally to this work with: Gregory S. Barsh, Hua Tang

    sbeleza@stanford.edu (SB); gbarsh@hudsonalpha.org (GSB)

    Affiliations: Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America

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  • Hua Tang equal contributor

    equal contributor Contributed equally to this work with: Gregory S. Barsh, Hua Tang

    Affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America

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  • Published: March 21, 2013
  • DOI: 10.1371/journal.pgen.1003372

Reader Comments (1)

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Into Africa

Posted by EP1987 on 24 Apr 2013 at 10:19 GMT

A point on this statement --

"The derived APBA2 (OCA2) allele is present at low frequencies in most populations of African ancestry, and at high frequencies in most populations of Asian and European ancestry. [...] These results suggest that an APBA2 (OCA2) mutation conferring light skin arose before the spread of humans out of Africa [...]"

If this gene, as found in Sub-Saharan Africa, does not have a specific molecular indication of being ancestral, there are numerous likely migrations into Sub-Saharan Africa to account for its presence there, as well as gene diffusion from 30,000 years of Caucasians in North Africa.

Unfortunately the anti-colonialist doctrine of today's leftist-dominated anthropology establishment adds "Never Into Africa" to its Recent Out of Africa. Entry from ancient Europe is utterly banned, and from the Middle East only grudgingly and conditionally tolerated where unavoidable.

Also if the derived gene in Africa is indeed indigenous, the question is whether this was originally associated with the Bushmen. They are still today lighter-skinned than Central Africans, and prior to the Bantu domination of southern Africa may have been more tan than brown. (Their generally light skin incidentally also challenges the vitamin D theory of skin color, with perhaps camouflage in jungle shadows being a factor for darkest brown skin.)

But certainly Eurasian forms of the APBA2 (OCA2) gene will be found in Sub-Saharan Africa -- among the Lemba with the Cohanim Modal Haplotype, among the 10% of Ethiopians with R1b Y-chromosomes, among that mystery cluster of R1b centered on northern Cameroon, among the light-skinned, European-featured Fulani (traditionally regarded as ancestral to the entire Niger-Congo/Bantu expansion), and of course all along the Arab slave coast, and throughout areas of European colonial inhabitation.

No competing interests declared.