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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“For example, these technologies have allowed researchers to ask fundamental questions about human history (Liu et al. 2006; Reich et al. 2009; Tishkoff et al. 2009), to identify genetic relationships between individuals (Stankovich et al. 2005; Pemberton et al. 2010; Kyriazopoulou-Panagiotopoulou…”
Background
Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry
Benjamin, K. J., Chen, Q., Eagles, N. J., Huuki-Myers, L. A., Collado‐Torres, L., Stolz, J. M., Pertea, G. M., Shin, J. H., Paquola, A. C. M., Hyde, T. M., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01636-0 · Cited by 38
“1) consistent with previous reports and the history of the slave trade 18,19 .”
Special Populations and Pharmacogenetic Issues in Tuberculosis Drug Development and Clinical Research
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“sity [4], and yet Africa is the least studied region.”
Background
Variability at the FCGR locus: characterization in Black South Africans and evidence for ethnic variation in and out of Africa
Lassaunière, R., & Tiemessen, C. T. (2015) · Genes and Immunity · doi:10.1038/gene.2015.60 · Cited by 32
Inferring Past Effective Population Size from Distributions of Coalescent Times
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Isotopic and microbotanical insights into Iron Age agricultural reliance in the Central African rainforest
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Self-citation
smartsnp , an r package for fast multivariate analyses of big genomic data
Herrando‐Pérez, S., Tobler, R., & Huber, C. D. (2021) · Methods in Ecology and Evolution · doi:10.1111/2041-210x.13684 · Cited by 32
“…of modern research like animal domestication (e.g. Orlando et al., 2013; Qiu et al., 2015) and extinction risk (e.g. Frandsen et al., 2020; Liu et al., 2018), and human population (pre)history (e.g. Lazaridis et al., 2014; Tishkoff et al., 2009) and disease (Khera et al., 2016; Zhang et al., 2009).”
Background
Association of FTO, ABCA1, ADRB3, and PPARG variants with obesity, type 2 diabetes, and metabolic syndrome in a Northwest Mexican adult population
Velazquez-Roman, J. A., Zamudio, U. A. A., León-Sicairos, N. M., Serrano, J. M. M., DeLira-Bustillos, N., Villamil‐Ramírez, H., Canizales‐Quinteros, S., Kauffer, L. R. M., Campos‐Romero, A., Alcántar‐Fernández, J., et al. (2021) · Journal of Diabetes and its Complications · doi:10.1016/j.jdiacomp.2021.108025 · Cited by 32
The Admixture Structure and Genetic Variation of the Archipelago of Cape Verde and Its Implications for Admixture Mapping Studies
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“presently one of the most highly admixed populations resulting from the mixing of European and African parental contributions [7,9,11,12,49,13], and may be only paralleled by some regions in Brazil [27,50,51].”
Background
Racial discrimination: How not to do it
Hochman, A. (2013) · Studies in History and Philosophy of Science Part C Studies in History and Philosophy of Biological and Biomedical Sciences · doi:10.1016/j.shpsc.2013.03.003 · Cited by 32
“In another study Tishkoff et al. (2009) analysed the structure of worldwide populations from K = 2 to K = 14, adding genotypes from Africa, India, Oceania, and the U.S. which were not used in the Rosenberg et al. study.”
Method
Increasing the discrimination power of forensic STR testing by employing high-performance mass spectrometry, as illustrated in indigenous South African and Central Asian populations
Pitterl, F., Schmidt, K., Huber, G. E., Zimmermann, B., Delport, R., Amory, S., Ludes, B., Oberacher, H., & Parson, W. (2010) · International Journal of Legal Medicine · doi:10.1007/s00414-009-0408-x · Cited by 32
STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression
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Contribution of higher risk genes and European admixture to Crohnʼs disease in African Americans
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Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring
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Self-citation
A Genome-Wide Perspective of Human Diversity and Its Implications in Infectious DiseasePreprint
Manry, J., & Quintana‐Murci, L. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a012450 · Cited by 33
Rye: genetic ancestry inference at biobank scale
Conley, A. B., Rishishwar, L., Ahmad, M., Sharma, S., Norris, E. T., Jordan, I. K., & Mariño‐Ramírez, L. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad149 · Cited by 29
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans
Bosch, J., Noubiap, J. J., Dandara, C., Makubalo, N., Wright, G. E. B., Entfellner, J.-B. D., Tiffin, N., & Wonkam, A. (2014) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2014.0063 · Cited by 31
“At the genetic level, Cameroonian population diversity mimics that of various ethno-linguistic groups in African populations (Tishkoff et al., 2009) and it is anticipated that results from a carefully selected sample in this population could represent a snapshot of that of many African populations.”
Background
Genomic and Geographic Distribution of Private SNPs and Pathways in Human Populations
Baye, T. M., Wilke, R. A., & Olivier, M. (2009) · Personalized Medicine · doi:10.2217/pme.09.54 · Cited by 32
Recombination Gives a New Insight in the Effective Population Size and the History of the Old World Human Populations
Melé, M., Javed, A., Pybus, M., Zalloua, P., Haber, M., Comas, D., Netea, M. G., Balanovsky, O., Balanovska, E. V., Li, J., et al. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msr213 · Cited by 31
The demographic and adaptive history of central African hunter-gatherers and farmers
Patin, É., & Quintana‐Murci, L. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.07.008 · Cited by 37
Genetics of Obesity and Type 2 Diabetes in African Americans
McCormack, S. E., & Grant, S. F. A. (2013) · Journal of Obesity · doi:10.1155/2013/396416 · Cited by 34
“The unique challenges of performing research in groups with significant genetic diversity and a complex population history [11] may be better viewed as opportunities for new insights.”
Background
North African Influences and Potential Bias in Case-Control Association Studies in the Spanish Population
Pino-Yanes, M. D. M., Corrales, A., Basaldúa, S., Hernández, A., Guerra, L. M., Villar, J., & Flores, C. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018389 · Cited by 31
Evolution of detoxifying systems: the role of environment and population history in shaping genetic diversity at human CYP2D6 locus
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No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans
Wonkam, A., Bosch, J., Noubiap, J. J., Lebeko, K., Makubalo, N., & Dandara, C. (2014) · South African Medical Journal · doi:10.7196/samj.8814 · Cited by 31
“Finally, at the genetic level, the Cameroonian population diversity mimics that of various ethnolinguistic groups in African populations;[23] it is anticipated that results from a carefully selected sample in this population could capture those of many other populations on the African continent.”
Background
The Episode of Genetic Drift Defining the Migration of Humans out of Africa Is Derived from a Large East African Population Size
Elhassan, N. M., Gebremeskel, E. I., Elnour, M. A., Isabirye, D., Okello, J. B. A., Hussien, A., Kwiatksowski, D., Hirbo, J. B., Tishkoff, S., & Ibrahim, M. E. (2014) · PLoS ONE · doi:10.1371/journal.pone.0097674 · Cited by 31
“[8] and find convincing correlation and a persistent pattern where Africans and particularly east Africans show greater variance in both distance and Bayesian based analysis.”
BackgroundSelf-citation
Global Survey of Variation in a Human Olfactory Receptor Gene Reveals Signatures of Non-Neutral Evolution
Hoover, K. C., Gökçümen, Ö., Qureshy, Z., Bruguera, E. S., Savangsuksa, A., Cobb, M. A., & Matsunami, H. (2015) · Chemical Senses · doi:10.1093/chemse/bjv030 · Cited by 31
“The geographic distribution of alleles associated with androstenone perception suggested a typical pattern—more variation in African populations (Tishkoff et al. 2002; Campbell et al. 2008; Jorde et al. 2000; Li et al. 2008; Tishkoff et al. 2009) and low variation in Native American populations (Wang et al.”
Background
Genetic Ancestry-Smoking Interactions and Lung Function in African Americans: A Cohort Study
Aldrich, M. C., Kumar, R., Colangelo, L. A., Williams, L. K., Sen, Ś., Kritchevsky, S. B., Meibohm, B., Galanter, J., Hu, D., Gignoux, C. R., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039541 · Cited by 32
Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations
Picton, A. C. P., Paximadis, M., & Tiemessen, C. T. (2010) · Infection Genetics and Evolution · doi:10.1016/j.meegid.2010.02.012 · Cited by 31
Incidence of motor neuron disease/amyotrophic lateral sclerosis in South Africa: a 4‐year prospective study
Henning, F., Heckmann, J. M., Naidu, K., Vlok, L., Cross, H., & Marin, B. (2020) · European Journal of Neurology · doi:10.1111/ene.14499 · Cited by 31
“with between 17% and 29% European proportional ancestry [14,15,30,31].”
Background
New Insights into the Lake Chad Basin Population Structure Revealed by High-Throughput Genotyping of Mitochondrial DNA Coding SNPs
Cerezo, M., Černý, V., Carracedo, Á., & Salas, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018682 · Cited by 31
CYP1A2 is more variable than previously thought: a genomic biography of the gene behind the human drug-metabolizing enzyme
Browning, S. L., Tarekegn, A., Bekele, E., Bradman, N., & Thomas, M. (2010) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32833e90eb · Cited by 29
The unnatural racial naturalism
Spencer, Q. (2014) · Studies in History and Philosophy of Science Part C Studies in History and Philosophy of Biological and Biomedical Sciences · doi:10.1016/j.shpsc.2014.02.005 · Cited by 30
“Tishkoff et al. (2009) used Structure, principle component analysis (or ‘‘PCA’’),6 1327 genetic markers, 3945 individuals, and 181 human populations from all across the globe.”
BackgroundMethodInfluential
Recent Admixture in an Indian Population of African Ancestry
Narang, A., Jha, P., Rawat, V., Mukhopadhayay, A., Dash, D., Basu, A., & Mukerji, M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.06.004 · Cited by 30
Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness
Ahsan, T., Urmi, N. J., & Sajib, A. A. (2020) · PLoS ONE · doi:10.1371/journal.pone.0228000 · Cited by 33
“Fossil and genetic evidences suggest that anatomically modern humans evolved in Africa about 150,000 to 190,000 years ago and then migrated into Europe, Asia, and finally to the Americas in an approximately West-to-East pattern [82, 90, 91].”
Background
Herpes Simplex Virus: A Versatile Tool for Insights Into Evolution, Gene Delivery, and Tumor Immunotherapy
Mody, P. H., Pathak, S., Hanson, L. K., & Spencer, J. V. (2020) · Virology Research and Treatment · doi:10.1177/1178122x20913274 · Cited by 30
Adaptive Admixture of HLA Class I Allotypes Enhanced Genetically Determined Strength of Natural Killer Cells in East Asians
Deng, Z., Zhen, J., Harrison, G. F., Zhang, G., Chen, R., Sun, G., Yu, Q., Nemat‐Gorgani, N., Guethlein, L. A., He, L., et al. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab053 · Cited by 30
“represent major modern human groups (Rosenberg et al. 2002; Tishkoff et al. 2009).”
Breast cancer risk factors in relation to molecular subtypes in breast cancer patients from Kenya
Sayed, S., Fan, S., Moloo, Z., Wasike, R., Bird, P., Saleh, M. N., Shaikh, A. J., Figueroa, J. D., Naidoo, R., Makokha, F., et al. (2021) · Breast Cancer Research · doi:10.1186/s13058-021-01446-3 · Cited by 30
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Background
Genetic ancestry and ethnic identity in Ecuador
Nagar, S. D., Conley, A. B., Chande, A. T., Rishishwar, L., Sharma, S., Mariño‐Ramírez, L., Aguinaga-Romero, G., González‐Andrade, F., & Jordan, I. K. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100050 · Cited by 36
The sampling scheme matters: Pan troglodytes troglodytes and P. t. schweinfurthii are characterized by clinal genetic variation rather than a strong subspecies break
Fünfstück, T., Arandjelovic, M., Morgan, D., Sanz, C., Reed, P. E., Olson, S. H., Cameron, K., Ondzie, A. I., Peeters, M., & Vigilant, L. (2014) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22638 · Cited by 30
Africa: the next frontier for human disease gene discovery?
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Different Selected Mechanisms Attenuated the Inhibitory Interaction of KIR2DL1 with C2+ HLA-C in Two Indigenous Human Populations in Southern Africa
Nemat‐Gorgani, N., Hilton, H. G., Henn, B. M., Lin, M. H., Gignoux, C. R., Myrick, J. W., Werely, C. J., Granka, J. M., Möller, M., Hoal, E. G., et al. (2018) · The Journal of Immunology · doi:10.4049/jimmunol.1701780 · Cited by 29
“We extended this analysis to the Hadza and Ga-Adangbe populations, which are distantly related to the KhoeSan (6).”
BackgroundMethod
PTRHD1 Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability
Kuipers, D. J. S., Carr, J. A., Bardien, S., Thomas, P., Sebate, B., Breedveld, G. J., van Minkelen, R., Brouwer, R. W. W., van IJcken, W. F. J., van Slegtenhorst, M. A., et al. (2018) · Movement Disorders · doi:10.1002/mds.27501 · Cited by 30
Iwo Eleru's place among Late Pleistocene and Early Holocene populations of North and East Africa
Stojanowski, C. M. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2014.02.018 · Cited by 28
Molecular Dissection of the Basal Clades in the Human Y Chromosome Phylogenetic Tree
Scozzari, R., Massaia, A., D’Atanasio, E., Myres, N. M., Perego, U. A., Trombetta, B., & Cruciani, F. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049170 · Cited by 29
“Different geographical regions in the African continent have been proposed for the origin of different portions of the human genome [18,37,38].”
Background

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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