title: Genetic variation and adaptation in Africa: implications for human evolution and disease.
abstract: Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent.
authors.affiliation: Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104 Hominid Paleobiology Doctoral Program and The Center for the Advanced Study of Hominid Paleobiology, Department of Anthropology, The George Washington University, Washington, D.C. 20052.
authors.forename: Felicia
authors.initials: F
authors.lastname: Gomez
authors.affiliation: Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
authors.forename: Jibril
authors.initials: J
authors.lastname: Hirbo
authors.affiliation: Department of Genetics and Biology, School of Medicine and School of Arts and Sciences, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Tishkoff
mesh_terms: D000349:Africa; D005075:Biological Evolution; D044383:Black People / Q000235:genetics*; D041322:Chromosomes, Human, Y; D004272:DNA, Mitochondrial; D019143:Evolution, Molecular; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D043322:Lactase / Q000235:genetics; D008288:Malaria / Q000235:genetics; D012641:Selection, Genetic
chemical_list: D004272:DNA, Mitochondrial; D043322:Lactase