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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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“These conclusions should however, be made with caution, as the relatively frequent occurrence of rare variants in African populations (Tishkoff et al., 2009) cannot be ignored and the effect of such variants should possibly also be taken into account when considering the implementation of…”
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“With regard to sub-Saharan African populations, this sampling is still woefully inadequate (Tishkoff et al. 2009).”
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“…although there is substantial variation among individuals and in different geographic regions in the United States (Kostrikis et al. 1998; Halder et al. 2009, 2012; Tishkoff et al. 2009; Bryc et al. 2010, 2014; Murray et al. 2010; Tandon et al. 2011; Bhatia et al. 2014; Mersha and Abebe 2015).”
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A racial classification for medical genetics
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“‘Oceanian’ is the preferred name among population geneticists for the fifth group (Tishkoff et al. 2009, 1037).”
BackgroundMethodAlan Lomax’s Cantometrics Project
Savage, P. E. (2018) · Music & Science · doi:10.1177/2059204318786084 · Cited by 41
“However, recent genetic evidence suggests that these two groups do share common “Proto-Khoesan-Pygmy” roots, although these roots go back to *35,000 ya or beyond (Tishkoff et al., 2009).”
BackgroundGenomic perspectives on human dispersals during the Holocene
Stoneking, M., Arias, L., Liu, D., Oliveira, S., Pugach, I., & Rodriguez, J. J. R. B. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2209475119 · Cited by 35
Mortensen, H., Froment, A., Lema, G., Bodo, J., Ibrahim, M., Nyambo, T., Omar, S., & Tishkoff, S. (2011) · Pharmacogenomics (London) · doi:10.2217/pgs.11.88 · Cited by 46
Self-citationRawshani, A., Svensson, A., Rosengren, A., Zethelius, B., Eliasson, B., & Guðbjörnsdóttir, S. (2015) · BMJ Open · doi:10.1136/bmjopen-2015-007599 · Cited by 42
“Africans exhibit the greatest genetic diversity of all human populations.(47) A recent study examined two African populations and showed that their HbA1c differed; lower levels were found for the East African population.”
BackgroundDiverse African genomes reveal selection on ancient modern human introgressions in Neanderthals
Harris, D., Platt, A., Hansen, M. E. B., Fan, S., McQuillan, M. A., Nyambo, T., Mpoloka, S. W., Mokone, G. G., Belay, G., Fokunang, C., et al. (2023) · Current Biology · doi:10.1016/j.cub.2023.09.066 · Cited by 42
Self-citationGenes, culture, and scientific racism
Laland, K. N., & Feldman, M. W. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2322874121 · Cited by 48
Aminkeng, F., Ross, C. J., Rassekh, S. R., Brunham, L. R., Sistonen, J., Dubé, M., Ibrahim, M. E., Nyambo, T., Omar, S. A., Froment, A., et al. (2013) · The Pharmacogenomics Journal · doi:10.1038/tpj.2013.13 · Cited by 40
Self-citationDaya, M., van der Merwe, L., Gignoux, C. R., van Helden, P. D., Möller, M., & Hoal, E. G. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-1021 · Cited by 39
“Full list of author information is available at the end of the article [1-5].”
The apportionment of human diversity revisited
Hunley, K., Cabana, G. S., & Long, J. C. (2015) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22899 · Cited by 44
Genomics of Human Pulmonary Tuberculosis: from Genes to Pathways
Stein, C. M., Sausville, L. N., Wejse, C. M., Sobota, R. S., Zetola, N. M., Hill, P. C., Boom, W. H., Scott, W. K., Sirugo, G., & Williams, S. M. (2017) · Current Genetic Medicine Reports · doi:10.1007/s40142-017-0130-9 · Cited by 40
Self-citationRacial realism I: Are biological races real?
Spencer, Q. (2017) · Philosophy Compass · doi:10.1111/phc3.12468 · Cited by 40
Modeling the 3D Geometry of the Cortical Surface With Genetic Ancestry
Fan, C.-C., Bartsch, H., Schork, A., Chen, C.-H., Wang, Y.-P., Lo, M.-T., Brown, T., Kuperman, J., Hagler, D., Schork, N., et al. (2015) · Current Biology · doi:10.1016/j.cub.2015.06.006 · Cited by 40
“The geometry robustly predicts each individual’s genetic background even though the population has been shaped by waves of migration and admixtures [12, 18].”
Orkin, C. M., Sadiq, S. T., Rice, L., Jackson, F., & on behalf of the UK EPI team (2009) · HIV Medicine · doi:10.1111/j.1468-1293.2009.00762.x · Cited by 40
Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing
Vía, M., Ziv, E., & Burchard, E. G. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01263.x · Cited by 43
Factors predicting inhaled corticosteroid responsiveness in African American patients with asthma
Gould, W., Peterson, E. L., Karungi, G., Zoratti, A., Gaggin, J., Toma, G., Yan, S., Levin, A., Yang, J. J., Wells, K., et al. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.08.002 · Cited by 42
Podgorná, E., Diallo, I., Vangenot, C., Sanchez‐Mazas, A., Sabbagh, A., Černý, V., & Poloni, E. S. (2015) · BMC Evolutionary Biology · doi:10.1186/s12862-015-0543-6 · Cited by 38
“2 and Additional file 11: Figure S8 and Additional file 12: Figure S9) indicate that neither differentiation among geographic groups nor among linguistic groups does associate with the genetic structure of populations displayed by NAT2 sequences, contrarily to what is known for polymorphisms at other loci of the genom…”
BackgroundHuman population history revealed by a supertree approach
Duda, P., & Zrzavý, J. (2016) · Scientific Reports · doi:10.1038/srep29890 · Cited by 39
“We used 16 parameter sets (for each population sample in parallel), based on combinations of four weighting and four rooting schemes as follows: either (1) all data partitions were weighted equally, or (2) all trees were upweighted by the factor of 1,000 relative to admixture plots, or (3) genetic/genomic trees were u…”
MethodDarwin and the recent African origin of modern humans
Klein, R. G. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908719106 · Cited by 39
Using Polygenic Scores in Social Science Research: Unraveling Childlessness
Verweij, R., Mills, M. C., Stulp, G., Nolte, I. M., Barban, N., Tropf, F. C., Carrell, D. T., Aston, K. I., Zondervan, K. T., Rahmioğlu, N., et al. (2019) · Frontiers in Sociology · doi:10.3389/fsoc.2019.00074 · Cited by 38
Colic, A., Alessandrini, M., & Pepper, M. S. (2014) · Drug Metabolism Reviews · doi:10.3109/03602532.2014.982864 · Cited by 38
“Unfortunately, there have been limited reports detailing pharmacogenetically relevant genes in Africa, even though African populations show higher levels of genetic diversity compared to other populations (Tishkoff et al., 2009).”
BackgroundSikora, M., Laayouni, H., Calafell, F., Comas, D., & Bertranpetit, J. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.141 · Cited by 38
African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era
Kasembeli, A. (2015) · World Journal of Nephrology · doi:10.5527/wjn.v4.i2.295 · Cited by 38
Detection of Convergent Genome-Wide Signals of Adaptation to Tropical Forests in Humans
Amorim, C. E. G., Daub, J. T., Salzano, F. M., Foll, M., & Excoffier, L. (2015) · PLoS ONE · doi:10.1371/journal.pone.0121557 · Cited by 41
“The rationale behind the use of different population sets is to look for congruent signals of adaptation across data sets, and thus to eliminate signals potentially due to particular tropical forest populations, which have been shown to present high rates of genetic drift due to their small effective population sizes…”
BackgroundGenetic Studies of the Etiology of Asthma
Barnes, K. C. (2011) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201103-030ms · Cited by 38
Pfeiffer, S., Doyle, L. E., Kurki, H. K., Harrington, L., Ginter, J. K., & Merritt, C. E. (2014) · International Journal of Paleopathology · doi:10.1016/j.ijpp.2014.05.005 · Cited by 38
Anisotropic Isolation by Distance: The Main Orientations of Human Genetic Differentiation
Jay, F., Sjödin, P., Jakobsson, M., & Blum, M. G. B. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss259 · Cited by 41
“2005), the continental scale (Lao et al. 2008; Novembre et al. 2008; Tishkoff et al. 2009), as well as finer scales (Helgason et al.”
BackgroundGlobal variation in gene expression and the value of diverse sampling
Kelly, D. E., Hansen, M. E. B., & Tishkoff, S. A. (2017) · Current Opinion in Systems Biology · doi:10.1016/j.coisb.2016.12.018 · Cited by 38
“Africans, which have maintained large population sizes relative to nonAfricans, have the highest levels of genetic diversity on a global scale, as well as high levels of population substructure [11].”
BackgroundSelf-citationThe quagmire of race, genetic ancestry, and health disparities
Sirugo, G., Tishkoff, S. A., & Williams, S. M. (2021) · Journal of Clinical Investigation · doi:10.1172/jci150255 · Cited by 38
“Indeed, populations from Africa, often referred to as a single race based on skin color, have higher levels of genetic diversity than that observed among all other global populations (4).”
BackgroundSelf-citationRecent Acquisition of Helicobacter pylori by Baka Pygmies
Nell, S., Eibach, D., Montano, V., Маады, А. С., Nkwescheu, A. S., Siri, J. G., Elamin, W. F., Falush, D., Linz, B., Achtman, M., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003775 · Cited by 38
“Genomewide analyses of numerous human populations have revealed that other hunter-gatherer populations such as Pygmies, Sandawe and Hadza also branched early in African prehistory, suggesting a common and ancient origin for hunter-gatherers [20,23,24].”
Askland, K. D., Read, C., O’Connell, C. P., & Moore, J. H. (2011) · Human Genetics · doi:10.1007/s00439-011-1082-x · Cited by 39
Self-citationGenetic Evidence for Complexity in Ethnic Differentiation and History in East Africa
Poloni, E. S., Naciri, Y., Bucho, R. I., Niba, R., Kervaire, B., Excoffier, L., Langaney, A., & Sanchez‐Mazas, A. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00541.x · Cited by 36
The Impact of Ancient Genome Studies in Archaeology
Gökçümen, Ö., & Frachetti, M. D. (2020) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-010220-074353 · Cited by 40
Boyette, A. H., Lew‐Levy, S., Jang, H., & Kandza, V. H. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2020.0490 · Cited by 40
Matejcic, M., Li, D., Prescott, N. J., Lewis, C. M., Mathew, C. G., & Parker, M. I. (2011) · PLoS ONE · doi:10.1371/journal.pone.0029366 · Cited by 37
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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