The Genetic Structure and History of Africans and African Americans

By S. Tishkoff, F. A. Reed, F. Friedlaender, C. Ehret, A. Ranciaro, A. Froment, J. Hirbo, A. Awomoyi, J. Bodo, O. Doumbo and 15 more. Science, 2009

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African Origins The modern human originated in Africa and subsequently spread across the globe. However, the genetic relationships among the diverse populations on the African continent have been unclear. Tishkoff et al. (p. 1035; see the cover, published online 30 April) provide a detailed genetic analysis of most major groups of African populations. The findings suggest that Africans represent 14 ancestral populations. Populations tend to be of mixed ancestry which documents historical migrations. The data mainly support but sometimes challenge proposed relationships between groups of self-identified ethnicity previously hypothesized on the basis of linguistic studies. The authors also examined populations of African Americans and individuals of mixed ancestry from Cape Town, documenting the variation and origins of admixture within these groups. A genetic study illuminates population history, as well as the relationships among and the origin of major language families. 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.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/c0e6c07be33f6076c65c35d498fbf68c96cca90a

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Citations in the corpus

Genotype Imputation with Thousands of Genomes (2011, background): “…demographic histories, deep ancestries, and strong selective pressures, which can cause patterns of haplotype sharing in Africa to look much different than patterns in other parts of the world (Bryc et al. 2010; Campbell and Tishkoff 2008, 2010; Reed and Tishkoff 2006; Tishkoff et al. 2007, 2009).”
The Missing Diversity in Human Genetic Studies. (2019, positive): “Africans have maintained larger and more sub-structured populations resulting in diverse patterns of LD across the continent (Tishkoff et al., 2009).”
An Examination of Polygenic Score Risk Prediction in Individuals With First-Episode Psychosis. (2017, background): “The PGC2 discovery data included 49 European, 3 Asian, and no African ancestry samples (2), while it is well established that Africans have higher genetic diversity and consequently shorter LD blocks (37), which is particularly relevant because most associated”
Inference of Population Structure using Dense Haplotype Data (2012, background): “[8]–[10]) current approaches powerfully extend this model by allowing individuals be admixed, i.”
An Evolutionary Anthropological Perspective on Modern Human Origins (2015, background): “Other ancient lineages such as the Pygmies and Hadza are recognized to arise after this (Lachance et al 2012, Tishkoff et al 2009).”
Collective Action in Diverse Sierra Leone Communities (2013, neutral): “23 Tishkoff et al. (2009) contains a detailed discussion of genetic diversity both within and across African populations, and documents the genetic signatures that characterise many African groups.”
The computer program STRUCTURE does not reliably identify the main genetic clusters within species: simulations and implications for human population structure (2011, background): “Both of these issues are evident in the papers describing human population structure that I have discussed above (Rosenberg et al., 2005; Tishkoff et al., 2009).”
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017, positive): “Previousworkpoints to southernAfrica as the point of origin for modern humans (Henn et al., 2011; Tishkoff et al., 2009), but it is unknown whether moderate to light skin pigmentation in the different KhoeSan populations is an example of convergent evolution with northern Europeans and Asians or ref”