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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]
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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
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“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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Steroidogenesis: Unanswered Questions
Miller, W. L. (2017) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2017.09.002 · Cited by 226
Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis
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The Evolution of Human Genetic and Phenotypic Variation in Africa
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Self-citationGenetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa
Ranciaro, A., Campbell, M. C., Hirbo, J. B., Ko, W., Froment, A., Anagnostou, P., Kotze, M. J., Ibrahim, M. E., Nyambo, T., Omar, S. A., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.009 · Cited by 215
“In addition, haplotype analysis supported an eastern African origin of the C-14010 LP-associated mutation in southern Africa.”
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Rotimi, C. N., & Jorde, L. B. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0911564 · Cited by 221
Inferring genetic ancestry: Opportunities, challenges, and implications
Royal, C. D., Novembre, J., Fullerton, S. M., Goldstein, D. B., Long, J. C., Bamshad, M. J., & Clark, A. G. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.011 · Cited by 271
APOL1 Kidney Risk Alleles: Population Genetics and Disease Associations
Limou, S., Nelson, G. W., Kopp, J. B., & Winkler, C. A. (2014) · Advances in Chronic Kidney Disease · doi:10.1053/j.ackd.2014.06.005 · Cited by 221
Marchant, R., Richer, S., Boles, O. J. C., Capitani, C., Mustaphi, C. J. C., Lane, P. J., Prendergast, M. E., Stump, D., Cort, G. D., Kaplan, J. O., et al. (2018) · Earth-Science Reviews · doi:10.1016/j.earscirev.2017.12.010 · Cited by 224
The Relationship Between FST and the Frequency of the Most Frequent Allele
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“For example, using microsatellite loci, Tishkoff et al. (2009) identified a number of genetically distinctive subgroups of African populations despite confirming that FST in Africa has an unexpectedly small value.”
BackgroundMethodInfluentialPopulation Stratification in Genetic Association Studies
Hellwege, J. N., Keaton, J. M., Giri, A., Gao, X., Edwards, D. R. V., & Edwards, T. L. (2017) · Current Protocols in Human Genetics · doi:10.1002/cphg.48 · Cited by 232
“…Africa 150,000 to 190,000 years ago (McDougall, Brown, & Fleagle, 2005; White et al., 2003) and expanded into a diverse array of niches there, providing Africans with the highest level of genetic diversity among current human continental populations (Rosenberg et al., 2002; Tishkoff et al., 2009).”
BackgroundGenome-wide analysis of the structure of the South African Coloured Population in the Western Cape
de Wit, E., Delport, W., Chimusa, E. R., Meintjes, A., Möller, M., van Helden, P. D., Seoighe, C., & Hoal, E. G. (2010) · Human Genetics · doi:10.1007/s00439-010-0836-1 · Cited by 228
Environmental impact of the 73ka Toba super-eruption in South Asia
Williams, M. A. J., Ambrose, S. H., van der Kaars, S., Rühlemann, C., Chattopadhyaya, U., Pal, J., & Chauhan, P. R. (2009) · Palaeogeography Palaeoclimatology Palaeoecology · doi:10.1016/j.palaeo.2009.10.009 · Cited by 209
Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c
Edelstein, L. C., Simon, L. M., Montoya, R. T., Holinstat, M. A., Chen, E. S., Bergeron, A. L., Kong, X., Nagalla, S., Mohandas, N., Cohen, D. E., et al. (2013) · Nature Medicine · doi:10.1038/nm.3385 · Cited by 208
“American blacks are an admixed group 32 and African lineages have greater diversity; these facts are reflected in the greater spread within that PCA-defined group.”
Human genetics and malaria resistance
Kariuki, S. N., & Williams, T. N. (2020) · Human Genetics · doi:10.1007/s00439-020-02142-6 · Cited by 207
Pleistocene sea-level fluctuations and human evolution on the southern coastal plain of South Africa
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Cryptic Distant Relatives Are Common in Both Isolated and Cosmopolitan Genetic Samples
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Ancient DNA reveals a multistep spread of the first herders into sub-Saharan Africa
Prendergast, M. E., Lipson, M., Sawchuk, E., Olalde, Í., Ogola, C. A., Rohland, N., Sirak, K. A., Adamski, N., Bernardos, R. L., Broomandkhoshbacht, N., et al. (2019) · Science · doi:10.1126/science.aaw6275 · Cited by 204
“This is the earliest documentation of western African–related ancestry in eastern Africa, in a region where today such ancestry is widespread and the majority of people speak Bantu languages (46).”
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An Examination of Polygenic Score Risk Prediction in Individuals With First-Episode Psychosis
Vassos, E., Forti, M. D., Coleman, J. R. I., Iyegbe, C. O., Prata, D. P., Euesden, J., O’Reilly, P. F., Curtis, C. J. C., Kolliakou, A., Patel, H., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.06.028 · Cited by 203
“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”
BackgroundMethodological challenges of genome-wide association analysis in Africa
Teo, Y., Small, K. S., & Kwiatkowski, D. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2731 · Cited by 202
A genome-wide association study on African-ancestry populations for asthma
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DETECTING RANGE EXPANSIONS FROM GENETIC DATA
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“This supports the interpretation that the origin of modern humans is somewhere in Southern Africa (Tishkoff et al. 2009; Henn et al. 2011).”
BackgroundAfrican genetic diversity and adaptation inform a precision medicine agenda
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Spatial patterns of variation due to natural selection in humans
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Prevalence of Glaucoma in an Urban West African Population
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The accelerated aging phenotype: The role of race and social determinants of health on aging
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“African American individuals also have varying proportions of genetic admixture, composed primarily of African and European ancestry with low levels of Native American ancestry (Bryc et al., 2010a; Tishkoff et al., 2009), and ancestry also varies by geographical region (Baharian et al., 2016).”
The Past and Future of Tuberculosis Research
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Hunter-Gatherers and the Origins of Religion
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The Later Stone Age Calvaria from Iwo Eleru, Nigeria: Morphology and Chronology
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Genome-wide association study of ancestry-specific TB risk in the South African Coloured population
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Ancient West African foragers in the context of African population history
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Y-Chromosomal Variation in Sub-Saharan Africa: Insights Into the History of Niger-Congo Groups
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The Great Migration and African-American Genomic Diversity
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“(7) This expression does not consider the possibility of multiple coalescent events and is therefore 573 appropriate only for a number of generations that is much less than the population size.”
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A comparison of worldwide phonemic and genetic variation in human populations
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“Indeed, Homo sapiens from Africa is considered to be the ancestor of modern humans and to contain the biggest genetic diversity (Tishkoff et al., 2009).”
Background
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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