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The Genetic Structure and History of Africans and African Americans
Open accessAbstract
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.
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“More recent studies that utilized high-density genotype data provide reliable individual ancestry estimates, illustrate the large variability in African and European ancestry proportions at an individual level, and are able to detect low proportions of Native American ancestry.3–11”
From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [8]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“This rich diversity is supported by genome‐wide microsatellite DNA variation in 3000 African subjects demonstrating 14 ancestral population groupings.”
From The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion (2023) · cites this paper as Tishkoff et al., 2009
Experimental — accuracy not yet measuredIn the citing paper
“The Sandawe have admixed with neighboring populations of diverse ancestries who migrated into Tanzania within the past 5000 years [73].”
From Population structure of human gut bacteria in a diverse cohort from rural Tanzania and Botswana (2019) · cites this paper as [73]
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“The possibility of the genetic relationship of Fulani pastoralists to Northern Africa via another, most likely Central-Sahelian population, must also be taken into account (Scheinfeldt et al., 2010; Tishkoff et al., 2009).”
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“…and the Caribbean (Benn Torres et al. 2008; Benn Torres, Stone, and Kittles 2013; Deason et al. 2012; Fendt 2012; Gaieski et al. 2011; Gomez, Hirbo, and Tishkoff 2014; Mendizabal et al. 2008; Price et al. 2017; Ruiz-Linares et al. 2014; Simms 2010; Stefflova et al. 2011; Tishkoff et al. 2009).”
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“Previous studies estimate that ancestry informative genetic markers in African Americans more closely approximate populations from West Africa (71%) than Europe (13%), although the percentage of African ancestry is highly variable within the African-American population.(20) This variability in percentage of African an…”
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McQuillan, M. A., Verhulst, S., Hansen, M. E. B., Beggs, W. R., Meskel, D. W., Belay, G., Nyambo, T., Mpoloka, S. W., Mokone, G. G., Charles, F., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.04.003 · Cited by 8
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“In both genetic studies, the ancestral clusters were well represented in at least one or more regions of North Africa, Eastern Africa, and West and Southern Africa [17], Fig.”
Detecting and Removing Ascertainment Bias in Microsatellites from the HGDP-CEPH Panel
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Sub-Saharan centralized biorepository for genetic and genomic research
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BackgroundPutting races on the ontological map: a close look at Spencer’s ‘new biologism’ of race
Winsberg, E. B. (2022) · Biology & Philosophy · doi:10.1007/s10539-022-09878-7 · Cited by 8
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“This deep population history and the lack of a population bottleneck associated with the out-of-Africa expansion means that African populations have the largest effective population sizes and the highest levels of genetic and phenotypic variation of all humans [27].”
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Metadata
- Authors
- Tishkoff, S. A., Reed, F. A., Friedlaender, F. R., Ehret, C., Ranciaro, A., Froment, A., Hirbo, J. B., Awomoyi, A. A., Bodo, J.-M., Doumbo, O., Ibrahim, M., Juma, A. T., Kotze, M. J., Lema, G., Moore, J. H., Mortensen, H., Nyambo, T. B., Omar, S. A., Powell, K., Pretorius, G. S., Smith, M. W., Thera, M. A., Wambebe, C., Weber, J. L., & Williams, S. M.
- Affiliations
- University of Maryland, College Park (US)
- Niche, Nutrition, Cancer et métabolisme oxydatif (FR)
- University of California, Los Angeles (US)
- University of Ferrara (IT)
- Muséum national d'Histoire naturelle (FR)
- Ministry of Scientific Research and Innovation (CM)
- University of Bamako (ML)
- University of Khartoum (SD)
- Stellenbosch University (ZA)
- Muhimbili University of Health and Allied Sciences (TZ)
- Departments of Genetics and Community and Family Medicine, Dartmouth Medical School, Lebanon, NH 03756, USA.
- Kenya Medical Research Institute (KE)
- National Cancer Institute (US)
- International Biomedical Research in Africa, Abuja, Nigeria.
- Marshfield Clinic Research Foundation (US)
- Vanderbilt University (US)
- Corresponding author
- Tishkoff, Sarah A.
- Reed, Floyd A.
- Friedlaender, Françoise R.
- Ranciaro, Alessia
- Froment, Alain
- Awomoyi, Agnes A.
- Mortensen, Holly
- Powell, Kweli
- ORCID
- Venue
- Science
- Published
- 2009-05-22
- Volume
- 324
- Issue
- 5930
- Pages
- 1035-1044
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC2947357
- OpenAlex
- W2129316818
- Cited by
- 1,573
- References
- 60
- Citations by year
- 2026: 65 · 2025: 98 · 2024: 56 · 2023: 69 · 2022: 69 · 2021: 85 · 2020: 79 · 2019: 88 · 2018: 88 · 2017: 84 · 2016: 89 · 2015: 102 · 2014: 119 · 2013: 93 · 2012: 123
- FWCI
- 75.46
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- IHI Repository (acceptedVersion)
- PubMed Central (acceptedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- National Institutes of Health (n01co12400-79-0-22)
- National Heart, Lung, and Blood Institute (R01 HL65234, R01HL065234)
- National Human Genome Research Institute (F32HG03801, F32HG003801)
- National Cancer Institute (N01-CO-012400)
- National Institute of General Medical Sciences (R01GM083606, R01GM076637)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Anthropology › Race, Genetics, and Society
- Keywords
- African American ancestry, admixture, microsatellite markers, InDel markers, Khoesan, Pygmies, European ancestry, migration history, self-reported ethnicity
- MeSH terms
- Africa, Bayes Theorem, Black or African American, Emigration and Immigration, Ethnicity, Genotype, Geography, Humans, Language, Phylogeny, Genetic Variation, Cluster Analysis, Microsatellite Repeats, Polymorphism, Single Nucleotide, Principal Component Analysis, Black People, Racial Groups, Gene Flow, INDEL Mutation
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