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Published Online April 30, 2009 Science
DOI: 10.1126/science.1172257
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Research Articles
Submitted on February 13, 2009
Accepted on April 17, 2009
The Genetic Structure and History of Africans and African Americans
Sarah A. Tishkoff 1*, Floyd A. Reed 2 , Françoise R. Friedlaender 3 , Christopher Ehret 4, Alessia Ranciaro 5 , Alain Froment 6 , Jibril B. Hirbo 1, Agnes A. Awomoyi 7, Jean-Marie Bodo 8, Ogobara Doumbo 9, Muntaser Ibrahim 10, Abdalla T. Juma 10, Maritha J. Kotze 11, Godfrey Lema 12, Jason H. Moore 13, Holly Mortensen 14, Thomas B. Nyambo 12, Sabah A. Omar 15, Kweli Powell 16, Gideon S. Pretorius 17, Michael W. Smith 18, Mahamadou A. Thera 9, Charles Wambebe 19, James L. Weber 20, Scott M. Williams 21
1 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Departments of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
2 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Present address: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, 24306 Plön, Germany.
3 Independent researcher, Sharon, CT 06069, USA.
4 Department of History, University of California, Los Angeles, CA 90095, USA.
5 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Departments of Genetics and Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dipartimento di Biologia ed Evoluzione, Università di Ferrara, 44100 Ferrara, Italy.
6 UMR 208, IRD-MNHN, Musée de l’Homme, 75116 Paris, France.
7 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Present address: Department of Internal Medicine, Ohio State University, Columbus, OH 43210, USA.
8 Ministère de la Recherche Scientifique et de l’Innovation, BP 1457, Yaoundé, Cameroon.
9 Malaria Research and Training Center, University of Bamako, Bamako, Mali.
10 Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-13 Khartoum, Sudan.
11 Department of Pathology, Faculty of Health Sciences, University of Stellenbosch, Tygerberg 7505, South Africa.
12 Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
13 Departments of Genetics and Community and Family Medicine, Dartmouth Medical School, Lebanon, NH 03756, USA.
14 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Present address: Office of Research and Development, National Center for Computational Toxicology, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711, USA.
15 Kenya Medical Research Institute, Center for Biotechnology Research and Development, 54840-00200 Nairobi, Kenya.
16 Department of Biology, University of Maryland, College Park, MD 20742, USA.; Present address: College of Education, University of Maryland, College Park, MD 20742, USA.
17 Division of Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Tygerberg 7505, South Africa.
18 Laboratory of Genomic Diversity, National Cancer Institute, Frederick, MD 21702, USA.
19 International Biomedical Research in Africa, Abuja, Nigeria.
20 Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.
21 Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
* To whom correspondence should be addressed.
Sarah A. Tishkoff , E-mail: tishkoff{at}mail.med.upenn.edu
These authors contributed equally to this work.
These authors contributed equally to this work.
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, 4 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 observe high levels of mixed ancestry in most populations, reflecting historic 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.
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