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Originally published in Science Express on 30 April 2009
Science 22 May 2009:
Vol. 324. no. 5930, pp. 1035 - 1044
DOI: 10.1126/science.1172257

Research Articles

The Genetic Structure and History of Africans and African Americans

Sarah A. Tishkoff,1,2,* Floyd A. Reed,1,{dagger},{ddagger} Françoise R. Friedlaender,3,{ddagger} Christopher Ehret,4 Alessia Ranciaro,1,2,5,§ Alain Froment,6,§ Jibril B. Hirbo,1,2 Agnes A. Awomoyi,1,|| Jean-Marie Bodo,7 Ogobara Doumbo,8 Muntaser Ibrahim,9 Abdalla T. Juma,9 Maritha J. Kotze,10 Godfrey Lema,11 Jason H. Moore,12 Holly Mortensen,1 Thomas B. Nyambo,11 Sabah A. Omar,13 Kweli Powell,1,# Gideon S. Pretorius,14 Michael W. Smith,15 Mahamadou A. Thera,8 Charles Wambebe,16 James L. Weber,17 Scott M. Williams18

Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, four African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observed high levels of mixed ancestry in most populations, reflecting historical migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (~71%), European (~13%), and other African (~8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies.

1 Department of Biology, University of Maryland, College Park, MD 20742, USA.
2 Departments of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
3 Independent researcher, Sharon, CT 06069, USA.
4 Department of History, University of California, Los Angeles, CA 90095, USA.
5 Dipartimento di Biologia ed Evoluzione, Università di Ferrara, 44100 Ferrara, Italy.
6 UMR 208, IRD-MNHN, Musée de l’Homme, 75116 Paris, France.
7 Ministère de la Recherche Scientifique et de l’Innovation, BP 1457, Yaoundé, Cameroon.
8 Malaria Research and Training Center, University of Bamako, Bamako, Mali.
9 Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-13 Khartoum, Sudan.
10 Department of Pathology, Faculty of Health Sciences, University of Stellenbosch, Tygerberg 7505, South Africa.
11 Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
12 Departments of Genetics and Community and Family Medicine, Dartmouth Medical School, Lebanon, NH 03756, USA.
13 Kenya Medical Research Institute, Center for Biotechnology Research and Development, 54840-00200 Nairobi, Kenya.
14 Division of Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Tygerberg 7505, South Africa.
15 Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702, USA.
16 International Biomedical Research in Africa, Abuja, Nigeria.
17 Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.
18 Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.

{dagger} Present address: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, 24306 Plön, Germany.

{ddagger} These authors contributed equally to this work.

§ These authors contributed equally to this work.

|| Present address: Department of Internal Medicine, Ohio State University, Columbus, OH 43210, USA.

Present address: Office of Research and Development, National Center for Computational Toxicology, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711, USA.

# Present address: College of Education, University of Maryland, College Park, MD 20742, USA.

* To whom correspondence should be addressed. E-mail: tishkoff{at}mail.med.upenn.edu

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