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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 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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“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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Gopalan, S., Berl, R. E. W., Myrick, J. W., Garfield, Z. H., Reynolds, A. W., Bafens, B. K., Belbin, G. M., Mastoras, M., Williams, C., Daya, M., et al. (2022) · Current Biology · doi:10.1016/j.cub.2022.02.050 · Cited by 74
CorrSieve : software for summarizing and evaluating Structure output
Campana, M. G., Hunt, H. V., Jones, H., & WHITE, J. (2010) · Molecular Ecology Resources · doi:10.1111/j.1755-0998.2010.02917.x · Cited by 74
Genome-wide insights into the genetic history of human populations
Pugach, I., & Stoneking, M. (2015) · Investigative Genetics · doi:10.1186/s13323-015-0024-0 · Cited by 72
“Genome-wide analyses began with studies of short-tandem repeat (STR) loci (also known as microsatellites), and while these provided some important insights into human population history [10-13], STR studies have been largely replaced by SNP data obtained from microarrays, as well as increasingly by genomic sequencing.”
BackgroundThe shaping of human diversity: filters, boundaries and transitions
Lahr, M. M. (2016) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2015.0241 · Cited by 77
Origins, Admixture Dynamics, and Homogenization of the African Gene Pool in the Americas
Gouveia, M. H., Borda, V., Leal, T. P., MOREIRA, R. G., Bergen, A. W., Kehdy, F. S. G., Alvim, I., de Aquino, M. M., de Araújo, G. S., Araujo, N. M., et al. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa033 · Cited by 67
“The Transatlantic Slave Trade shaped the genetic structure of American continent populations (AlvesSilva et al. 2000; Carvalho-Silva et al. 2001; Salzano and Bortolini 2001; Tishkoff et al. 2009; Bryc et al. 2010; Moreno-Estrada et al. 2013; Campbell et al. 2014; Kehdy et al. 2015; Baharian et al. 2016; Mathias et al.…”
BackgroundSelf-citationTayo, B. O., Teil, M., Tong, L., Qin, H., Khitrov, G., Zhang, W., Song, Q., Gottesman, O., Zhu, X., Pereira, A. C., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019166 · Cited by 70
Behar, D. M., Kedem, E., Rosset, S., Haileselassie, Y., Tzur, S., Kra-Oz, Z., Wasser, W. G., Shenhar, Y., Shahar, E., Hassoun, G., et al. (2011) · American Journal of Nephrology · doi:10.1159/000332378 · Cited by 72
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution
Wang, X., Mitra, N., Secundino, I., Banda, K., Cruz, P., Padler-Karavani, V., Verhagen, A., Reid, C., Lari, M., Rizzi, E., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119459109 · Cited by 72
Self-citationVitamin D in African Americans with multiple sclerosis
Gelfand, J., Cree, B., McElroy, J., Oksenberg, J. R., Green, R., Mowry, E. M., Miller, J. W., Hauser, S. L., & Green, A. J. (2011) · Neurology · doi:10.1212/wnl.0b013e31821cccf5 · Cited by 72
Extensive Admixture and Selective Pressure Across the Sahel Belt
Tříska, P., Soares, P. A., Patin, É., Fernandes, V., Černý, V., & Pereira, L. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv236 · Cited by 73
“Genome-wide local ancestry inference in admixed Sahelian populations revealed several candidate regions thatwere significantly enriched fornon-autochthonoushaplotypes, and many showed tobeunderpositive selection.”
BackgroundScozzari, R., Massaia, A., Trombetta, B., Bellusci, G., Myres, N. M., Novelletto, A., & Cruciani, F. (2014) · Genome Research · doi:10.1101/gr.160788.113 · Cited by 72
“This calls for a more even sampling coverage of MSY diversity in Africa, which should be also compared with the conclusions of recent autosomal genetic and craniometric data (Ramachandran et al. 2005; Manica et al. 2007; Tishkoff et al. 2009; Pagani et al. 2012; Schlebusch et al. 2012).”
ResultVeeramah, K. R., Connell, B., Ansari‐Pour, N., Powell, A., Plaster, C. A., Zeitlyn, D., Mendell, N. R., Weale, M. E., Bradman, N. N., & Thomas, M. (2010) · BMC Evolutionary Biology · doi:10.1186/1471-2148-10-92 · Cited by 71
Lachance, J., Berens, A. J., Hansen, M. E. B., Teng, A. K., Tishkoff, S. A., & Rebbeck, T. R. (2018) · Cancer Research · doi:10.1158/0008-5472.can-17-1550 · Cited by 73
“Differences in risk among Fulani individuals may be due to differential admixture with West African populations that have Bantu ancestry (15).”
BackgroundSelf-citationBridging the genomic data gap in Africa: implications for global disease burdens
Omotoso, O. E., Teibo, J. O., Atiba, F. A., Oladimeji, T., Adebesin, A. O., & Babalghith, A. O. (2022) · Globalization and Health · doi:10.1186/s12992-022-00898-2 · Cited by 72
the PATH (Personalized Alternative Therapies for Hemophilia) Study Investigators, Pandey, G. S., Yanover, C., Jenkins, L. M. M., Garfield, S. H., Cole, S. A., Curran, J. E., Moses, E. K., Rydz, N., Simhadri, V. L., et al. (2013) · Nature Medicine · doi:10.1038/nm.3270 · Cited by 71
Improving the performance of enteric vaccines in the developing world
Serazin, A. C., Shackelton, L. A., Wilson, C. B., & Bhan, M. K. (2010) · Nature Immunology · doi:10.1038/ni0910-769 · Cited by 69
Socio-Genomic Research Using Genome-Wide Molecular Data
Conley, D. (2016) · Annual Review of Sociology · doi:10.1146/annurev-soc-081715-074316 · Cited by 72
“For example, if we examine the unrooted genetic tree mapped by Tishkoff et al. (2009) and shown in Figure 4, we can see that the genetic distance between groups that were sampled within Africa is as great as the genetic distance between some very racially divergent groups in the rest of the world.”
BackgroundGuo, G., Fu, Y., Lee, H. E., Cai, T., Harris, K. M., & Li, Y. (2013) · Demography · doi:10.1007/s13524-013-0242-0 · Cited by 73
“Self-classified East Asians and Europeans in the U.S. sample overlap almost completely with the HGDP East Asians and Europeans, respectively, while self-classified African Americans are located slightly away from the HGDPAfricans and closer to the HGDP North Africans and Europeans, which is consistent with the presenc…”
InfluentialHaslam, M., Clarkson, C., Petraglia, M. D., Korisettar, R., Jones, S., Shipton, C., Ditchfield, P. W., & Ambrose, S. H. (2010) · Journal of Archaeological Science · doi:10.1016/j.jas.2010.07.034 · Cited by 68
The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus
Rosset, S., Tzur, S., Behar, D. M., Wasser, W. G., & Skorecki, K. L. (2011) · Nature Reviews Nephrology · doi:10.1038/nrneph.2011.52 · Cited by 68
Individual Identifiability Predicts Population Identifiability in Forensic Microsatellite Markers
Algee-Hewitt, B. F. B., Edge, M. D., Kim, J., Li, J. Z., & Rosenberg, N. A. (2016) · Current Biology · doi:10.1016/j.cub.2016.01.065 · Cited by 68
“The effect is apparent in the detailed ancestry inference possible in highheterozygosity African populations, despite comparatively low among-group FST [34, 35].”
BackgroundGenetic differentiation and the evolution of cooperation in chimpanzees and humans.
Langergraber, K., Schubert, G., Rowney, C., Wrangham, R., Zommers, Z., & Vigilant, L. (2011) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2010.2592 · Cited by 67
Sjödin, P., Sjöstrand, A. E., Jakobsson, M., & Blum, M. G. B. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss061 · Cited by 68
Cytochrome P450 pharmacogenetics in African populations
Alessandrini, M., Asfaha, S. M., Dodgen, T. M., Warnich, L., & Pepper, M. S. (2013) · Drug Metabolism Reviews · doi:10.3109/03602532.2013.783062 · Cited by 67
“The extensive genetic variation observed in modern day Africans stems largely from centuries of migratory patterns, population admixture and natural selection in light of the diverse environmental conditions on the African continent (Sirugo et al., 2008; Tishkoff et al., 2009).”
BackgroundHuman Colonization of Asia in the Late Pleistocene
Bae, C. J., Douka, K., & Petraglia, M. D. (2017) · Current Anthropology · doi:10.1086/694420 · Cited by 66
“Proponents of the Assimilation model suggest that admixture occurred in multiple places during multiple events (Dennell and Petraglia 2012; Smith et al. 1989, 2017; Trinkaus 2005).”
BackgroundMapping of disease-associated variants in admixed populations
Shriner, D., Adeyemo, A., Ramos, E., Chen, G., & Rotimi, C. N. (2011) · Genome biology · doi:10.1186/gb-2011-12-5-223 · Cited by 67
Chimusa, E. R., Daya, M., Möller, M., Ramesar, R., Henn, B. M., van Helden, P. D., Mulder, N., & Hoal, E. G. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073971 · Cited by 66
Warnich, L., Drögemöller, B. I., Pepper, M. S., Dandara, C., & Wright, G. E. B. (2011) · Current pharmacogenomics and personalized medicine (Online)/Current pharmacogenomics and personalized medicine · doi:10.2174/187569211796957575 · Cited by 66
Pinheiro, P. S., Medina, H. N., Callahan, K. E., Kwon, D., Ragin, C. C. R., Sherman, R., Kobetz, E. N., & Jemal, A. (2020) · Cancer Epidemiology · doi:10.1016/j.canep.2020.101709 · Cited by 66
Butovskaya, M., Vasilyev, V. A., Lazebny, O. E., Burkova, V. N., Куликов, А. М., Mabulla, A. Z. P., Shibalev, D. V., & Рысков, А. П. (2012) · Behavior Genetics · doi:10.1007/s10519-012-9533-2 · Cited by 66
African ancestry protects against Alzheimer's disease-related neuropathology
the Brazilian Aging Brain Study Group, Schlesinger, D., Grinberg, L. T., Alba, J. G., Naslavsky, M. S., Licínio, L., Farfel, J. M., Suemoto, C. K., Ferretti‐Rebustini, R. E. D. L., Leite, R. E. P., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.136 · Cited by 67
Stroke in Indigenous Africans, African Americans, and European Americans
Owolabi, M. O., Sarfo, F. S., Howard, V. J., Irvin, M. R., Gebregziabher, M., Akinyemi, R., Bennett, A., Armstrong, K., Tiwari, H. K., Akpalu, A. K., et al. (2017) · Stroke · doi:10.1161/strokeaha.116.015937 · Cited by 65
“A rare opportunity to unravel this is provided given that 71% of African Americans (AA) are of the NigerKordofanian ancestry from West Africa from where they migrated several centuries ago.(13,14) Therefore, as a first step to deciphering the relative contributions of racial (including genetic) and geographic (environ…”
A reduced representation approach to population genetic analyses and applications to human evolutionPreprint
Luca, F., Hudson, R. R., Witonsky, D., & Rienzo, A. D. (2011) · Genome Research · doi:10.1101/gr.119792.110 · Cited by 67
Genetic variation in Khoisan-speaking populations from southern Africa
Schlebusch, C. M. (2011) · University of the Witwatersrand, Johannesburg Institutional Repository on DSpace (University of the Witwatersrand, Johannesburg) · Cited by 70
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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