Cited by 1,573Forensic and Genetic ResearchGenetic diversity and population structureRace, Genetics, and Society

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The Genetic Structure and History of Africans and African Americans

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Tishkoff, Sarah A., Reed, Floyd A., Friedlaender, Françoise R., Ehret, Christopher, Ranciaro, Alessia, Froment, Alain, Hirbo, Jibril B., Awomoyi, Agnes A., Bodo, Jean-Marie, Doumbo, Ogobara, Ibrahim, Muntaser, Juma, Abdalla T., Kotze, Maritha J., Lema, Godfrey, Moore, Jason H., Mortensen, Holly, Nyambo, Thomas B., Omar, Sabah A., Powell, Kweli, Pretorius, Gideon S., Smith, Michael W., Thera, Mahamadou A., Wambebe, Charles, Weber, James L., Williams, Scott M.·2009·Science

DOI 10.1126/science.1172257PMC PMC2947357

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Abstract

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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Teo, Y., & Sim, X. (2010) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e3283369e5b · Cited by 12
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The Rise of Modern Humans
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High-Throughput High-Resolution Class I HLA Genotyping in East Africa
Koehler, R. N., Walsh, A. M., Sanders‐Buell, E., Eller, L. A., Eller, M. A., Currier, J. R., Bautista, C. T., Wabwire‐Mangen, F., Höelscher, M., Maboko, L., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010751 · Cited by 12
The influence of habitats on female mobility in Central and Western Africa inferred from human mitochondrial variation
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“Recent studies on large-scale datasets regarding autosomal markers (both STRs and SNPs) support the role of both geography and language in explaining the distribution of genetic variation in Africa [24,25].”
Background
Genetics and genomic medicine in Mali: challenges and future perspectives
Landouré, G., Samassékou, O., Traoré, M., Meilleur, K. G., Guinto, C. O., Burnett, B. G., Sumner, C. J., & Fischbeck, K. H. (2016) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.212 · Cited by 12
“Malian ethnic groups such as the Dogon were found to have unique genetic features, which differentiate them from other African populations (Tishkoff et al. 2009).”
Background
Population Diversity and Pharmacogenomics in Africa
Masimirembwa, C. M., Dandara, C., & Hasler, J. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-386882-4.00043-8 · Cited by 13
A Qualitative Exploration of Teacher and School Staff Experiences when Teaching Sexuality Education Programmes at Special Needs Schools in South Africa
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Genetics of HIV-associated sensory neuropathy and related pain in Africans
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“These populations are predominantly of West African descent, with variable amounts of admixture with other populations, complicating the interpretation of findings (Tishkoff et al. 2009).”
BackgroundInfluential
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 159 individuals from the Worcester region of the Western Cape province of South Africa
Grifoni, A., Sidney, J., Carpenter, C., Phillips, E. J., Mallal, S. A., Scriba, T. J., Sette, A., & Arlehamn, C. S. L. (2018) · Human Immunology · doi:10.1016/j.humimm.2018.01.004 · Cited by 12
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Genetic history of Chad
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Dyslipidaemia among Ghanaian migrants in three European countries and their compatriots in rural and urban Ghana: The RODAM study
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Subsistence strategy was the main factor driving population differentiation in the bidirectional corridor of the African Sahel
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Copy number variation in human genomes from three major ethno-linguistic groups in Africa
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“The population structure analysis of the WES dataset investigated in this study further highlights high genetic structure differences between the cohorts and across different African populations, a diversity associated with nearly 300,000 years of evolutionary changes.(21) This is an indication that future study on HI…”
Background
Plasma Adenosine Deaminase (ADA)-1 and -2 Demonstrate Robust Ontogeny Across the First Four Months of Human Life
Odumade, O. A., Plotkin, A. L., Pak, J., Idoko, O. T., Pettengill, M. A., Kollmann, T. R., Ozonoff, A., Kampmann, B., Levy, O., & Smolen, K. K. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.578700 · Cited by 12
“Ethnicity can impact plasma biomarkers (80, 81) and ethnicity, language, and geography have been associated with genetic diversity in African populations (82).”
Background
A reference database of forensic autosomal and gonosomal STR markers in the Tigray population of Ethiopia
Haddish, K., Chierto, E., Vella, G. D., Lacerenza, D., Raddi, S., Aneli, S., Bogale, A. L., Kidane, E. M., Yizengaw, A., Getaneh, Y., et al. (2021) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2021.102618 · Cited by 12
Genetic population study of Y-chromosome markers in Benin and Ivory Coast ethnic groups
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“have extensive genetic diversity (Tishkoff et al., 2009) and”
Interview with Sarah Tishkoff: Perspectives for Genetic Research in African Populations
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Fast principal components analysis reveals convergent evolution of ADH1B gene in Europe and East AsiaPreprint
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Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa
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Self-citation
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Evolution of long scalp hair in humans
Chang, L., Plikus, M. V., Jablonski, N. G., & Lin, S. (2025) · British Journal of Dermatology · doi:10.1093/bjd/ljae456 · Cited by 15
“25,26 The timing and genetic bases of diverse scalp hair forms, including straight hair, among dispersing AMH populations remain unclear.”
Permanent tooth emergence: Timing and sequence in a sample of Black Southern African children
Esan, T. A., Mothupi, K. A., & Schepartz, L. A. (2018) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23714 · Cited by 11
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Multiple Sclerosis in Black and Hispanic Populations
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High prevalence of anaemia among A frican migrants in G ermany persists after exclusion of iron deficiency and erythrocyte polymorphisms
Müller, S. A., Amoah, S., Meese, S., Spranger, J., & Mockenhaupt, F. P. (2015) · Tropical Medicine & International Health · doi:10.1111/tmi.12530 · Cited by 11
“In comparison with African Americans, most individuals of African ancestry in Europe have a lesser degree of Caucasian admixture [20], a more recent migration history, and thus a lower rate of acculturation.”
Background
Evaluating the possibility of detecting evidence of positive selection across Asia with sparse genotype data from the HUGO Pan-Asian SNP Consortium
Liu, X., Saw, W., Ali, M. I., Ong, R. T., & Teo, Y. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-332 · Cited by 11
“This situation is similar to that present in the Africa continent [1].”
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Pelvic stress injuries in a small‐bodied forager
Pfeiffer, S. (2011) · International Journal of Osteoarchaeology · doi:10.1002/oa.1176 · Cited by 11
Priority pharmacogenetics for the African continent: focus on CYP450
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The Craniometric Implications of a Complex Population History in South Africa
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Dispersal and speciation: The cross Atlantic relationship of two parasitic cnidarians
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Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa
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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: Tishkoff, Sarah A.
Reed, Floyd A.
Ranciaro, Alessia
Froment, Alain
Hirbo, Jibril B.
Ibrahim, Muntaser
Kotze, Maritha J.
Moore, Jason H.
Mortensen, Holly
Nyambo, Thomas B.
Smith, Michael W.
Thera, Mahamadou A.
Williams, Scott M.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2009-05-22
Volume: 324
Issue: 5930
Pages: 1035-1044
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1172257
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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The Genetic Structure and History of Africans and African Americans

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