African Genetic Diversity: Implications for Human Demographic History

Abstract
Annual Review of Genomics and Human Genetics
Vol. 9 (Volume publication date September 2008)
(doi:10.1146/ annurev.genom. 9.081307. 164258)

Review in Advance first posted online on July 1, 2008. (Minor changes
may still occur before final publication online and in print.)

African Genetic Diversity: Implications for Human Demographic
History, Modern Human Origins, and Complex Disease Mapping

Michael C. Campbell­

Department of Genetics, University of Pennsylvania School of
Medicine, Philadelphia, PA 19107; email: mcam@mail.med. upenn.edu

Sarah A. Tishkoff­

Department of Biology, University of Pennsylvania, School of Arts and
Sciences, Philadelphia, PA 19104; email: tishkoff@mail. med.upenn. edu

Comparative studies of ethnically diverse human populations,
particularly in Africa, are important for reconstructing human
evolutionary history and for understanding the genetic basis of
phenotypic adaptation and complex disease. African populations are
characterized by greater levels of genetic diversity, extensive
population substructure, and less linkage disequilibrium (LD) among
loci compared to non-African populations. Africans also possess a
number of genetic adaptations that have evolved in response to
diverse climates and diets, as well as exposure to infectious
disease. This review summarizes patterns and the evolutionary origins
of genetic diversity present in African populations, as well as their
implications for the mapping of complex traits, including disease
susceptibility.

Expected final online publication date for the Annual Review of
Genomics and Human Genetics Volume 9 is August 30, 2008. Please see
http://www.annualre views.org/ catalog/pubdates .aspx for revised
estimates.

http://arjournals. annualreviews. org/doi/abs/ 10.1146/annurev. genom.9.08
1307.164258

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