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MBE Advance Access published online on December 20, 2006
Molecular Biology and Evolution, doi:10.1093/molbev/msl203
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© The Author 2006. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians

Heather L. Norton1,8, Rick A. Kittles2, Esteban Parra3, Paul McKeigue4, Xianyun Mao1, Keith Cheng5,6, Victor A. Canfield6, Daniel G. Bradley7, Brian McEvoy7 and Mark D. Shriver1

1 Department of Anthropology, The Pennsylvania State University, 409 Carpenter Building, University Park, PA 16802
2 Department of Medicine, Section of Genetic Medicine, The University of Chicago, 5841 South Maryland Avenue, AMB W601 ~ MC6091, Chicago, IL 60637 USA
3 Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario LSL 1C6, Canada
4 Conway Institute, University College, Dublin, Dublin Ireland
5 Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA
6 Department of Pharmacology, The Pennsylvania State University College of Medicine, Hershey, PA
7 Smurfit Institute of Genetics, Trinity College, Dublin Ireland
8 current address: ARL-Biotechnology, University of Arizona, 1041 East Lowell Road, Biosciences West, Room 246, Tucson, AZ 85721

Corresponding author: Heather L. Norton, ARL-Biotechnology, University of Arizona, 1041 East Lowell Road, Biosciences West, Room 246, Tucson, AZ 85721, Fax: (520) 626-8050, Phone: (520) 621-9791, Email: hnorton{at}email.arizona.edu

Accepted for publication December 11, 2006.

Human skin pigmentation shows a strong positive correlation with ultraviolet radiation (UVR) intensity, suggesting that variation in skin color is, at least partially, due to adaptation via natural selection. We investigated the evolution of pigmentation variation by testing for the presence of positive directional selection in six pigmentation genes using an empirical FST approach, through an examination of global diversity patterns of these genes in the CEPH-Diversity Panel, and by exploring signatures of selection in data from the International HapMap project. Additionally, we demonstrated a role for MATP in determining normal skin pigmentation variation using admixture mapping methods. Taken together (with the results of previous admixture mapping studies), these results point to the importance of several genes in shaping the pigmentation phenotype and a complex evolutionary history involving strong selection. Polymorphisms in two genes, ASIP and OCA2, may play a shared role in shaping light and dark pigmentation across the globe while SLC24A5, MATP, and TYR have a predominant role in the evolution of light skin in Europeans but not in East Asians. These findings support a case for the recent convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians.

Key Words: skin pigmentation • natural selection • convergent evolution


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