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. 1996 Aug;59(2):437–444.

mtDNA sequence diversity in Africa.

E Watson 1, K Bauer 1, R Aman 1, G Weiss 1, A von Haeseler 1, S Pääbo 1
PMCID: PMC1914737  PMID: 8755932

Abstract

mtDNA sequences were determined from 241 individuals from nine ethnic groups in Africa. When they were compared with published data from other groups, it was found that the !Kung, Mbuti, and Biaka show on the order of 10 times more sequence differences between the three groups, as well as between those and the other groups (the Fulbe, Hausa, Tuareg, Songhai, Kanuri, Yoruba, Mandenka, Somali, Tukana, and Kikuyu), than these other groups do between one other. Furthermore, the pairwise sequence distributions, patterns of coalescence events, and numbers of variable positions relative to the mean sequence difference indicate that the former three groups have been of constant size over time, whereas the latter have expanded in size. We suggest that this reflects subsistence patterns in that the populations that have expanded in size are food producers whereas those that have not are hunters and gatherers.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Batista O., Kolman C. J., Bermingham E. Mitochondrial DNA diversity in the Kuna Amerinds of Panamá. Hum Mol Genet. 1995 May;4(5):921–929. doi: 10.1093/hmg/4.5.921. [DOI] [PubMed] [Google Scholar]
  3. Bertranpetit J., Sala J., Calafell F., Underhill P. A., Moral P., Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 1995 Jan;59(Pt 1):63–81. doi: 10.1111/j.1469-1809.1995.tb01606.x. [DOI] [PubMed] [Google Scholar]
  4. Cann R. L., Stoneking M., Wilson A. C. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. doi: 10.1038/325031a0. [DOI] [PubMed] [Google Scholar]
  5. Di Rienzo A., Wilson A. C. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 1;88(5):1597–1601. doi: 10.1073/pnas.88.5.1597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Graven L., Passarino G., Semino O., Boursot P., Santachiara-Benerecetti S., Langaney A., Excoffier L. Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol. 1995 Mar;12(2):334–345. doi: 10.1093/oxfordjournals.molbev.a040206. [DOI] [PubMed] [Google Scholar]
  7. Hedges S. B., Kumar S., Tamura K., Stoneking M. Human origins and analysis of mitochondrial DNA sequences. Science. 1992 Feb 7;255(5045):737–739. doi: 10.1126/science.1738849. [DOI] [PubMed] [Google Scholar]
  8. Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532–536. doi: 10.1073/pnas.92.2.532. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Kolman C. J., Bermingham E., Cooke R., Ward R. H., Arias T. D., Guionneau-Sinclair F. Reduced mtDNA diversity in the Ngöbé Amerinds of Panamá. Genetics. 1995 May;140(1):275–283. doi: 10.1093/genetics/140.1.275. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Marjoram P., Donnelly P. Pairwise comparisons of mitochondrial DNA sequences in subdivided populations and implications for early human evolution. Genetics. 1994 Feb;136(2):673–683. doi: 10.1093/genetics/136.2.673. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Mountain J. L., Hebert J. M., Bhattacharyya S., Underhill P. A., Ottolenghi C., Gadgil M., Cavalli-Sforza L. L. Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet. 1995 Apr;56(4):979–992. [PMC free article] [PubMed] [Google Scholar]
  12. Nee S., Holmes E. C., Rambaut A., Harvey P. H. Inferring population history from molecular phylogenies. Philos Trans R Soc Lond B Biol Sci. 1995 Jul 29;349(1327):25–31. doi: 10.1098/rstb.1995.0087. [DOI] [PubMed] [Google Scholar]
  13. Piercy R., Sullivan K. M., Benson N., Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med. 1993;106(2):85–90. doi: 10.1007/BF01225046. [DOI] [PubMed] [Google Scholar]
  14. Pult I., Sajantila A., Simanainen J., Georgiev O., Schaffner W., Päbo S. Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem Hoppe Seyler. 1994 Dec;375(12):837–840. [PubMed] [Google Scholar]
  15. Rogers A. R., Harpending H. Population growth makes waves in the distribution of pairwise genetic differences. Mol Biol Evol. 1992 May;9(3):552–569. doi: 10.1093/oxfordjournals.molbev.a040727. [DOI] [PubMed] [Google Scholar]
  16. Saitou N., Nei M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987 Jul;4(4):406–425. doi: 10.1093/oxfordjournals.molbev.a040454. [DOI] [PubMed] [Google Scholar]
  17. Sajantila A., Lahermo P., Anttinen T., Lukka M., Sistonen P., Savontaus M. L., Aula P., Beckman L., Tranebjaerg L., Gedde-Dahl T. Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res. 1995 Aug;5(1):42–52. doi: 10.1101/gr.5.1.42. [DOI] [PubMed] [Google Scholar]
  18. Santos M., Ward R. H., Barrantes R. mtDNA variation in the Chibcha Amerindian Huetar from Costa Rica. Hum Biol. 1994 Dec;66(6):963–977. [PubMed] [Google Scholar]
  19. Sherry S. T., Rogers A. R., Harpending H., Soodyall H., Jenkins T., Stoneking M. Mismatch distributions of mtDNA reveal recent human population expansions. Hum Biol. 1994 Oct;66(5):761–775. [PubMed] [Google Scholar]
  20. Shields G. F., Schmiechen A. M., Frazier B. L., Redd A., Voevoda M. I., Reed J. K., Ward R. H. mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet. 1993 Sep;53(3):549–562. [PMC free article] [PubMed] [Google Scholar]
  21. Slatkin M., Hudson R. R. Pairwise comparisons of mitochondrial DNA sequences in stable and exponentially growing populations. Genetics. 1991 Oct;129(2):555–562. doi: 10.1093/genetics/129.2.555. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Tajima F. The effect of change in population size on DNA polymorphism. Genetics. 1989 Nov;123(3):597–601. doi: 10.1093/genetics/123.3.597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Templeton A. R. Human origins and analysis of mitochondrial DNA sequences. Science. 1992 Feb 7;255(5045):737–737. doi: 10.1126/science.1590849. [DOI] [PubMed] [Google Scholar]
  24. Torroni A., Schurr T. G., Cabell M. F., Brown M. D., Neel J. V., Larsen M., Smith D. G., Vullo C. M., Wallace D. C. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet. 1993 Sep;53(3):563–590. [PMC free article] [PubMed] [Google Scholar]
  25. Torroni A., Sukernik R. I., Schurr T. G., Starikorskaya Y. B., Cabell M. F., Crawford M. H., Comuzzie A. G., Wallace D. C. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet. 1993 Sep;53(3):591–608. [PMC free article] [PubMed] [Google Scholar]
  26. Vigilant L., Stoneking M., Harpending H., Hawkes K., Wilson A. C. African populations and the evolution of human mitochondrial DNA. Science. 1991 Sep 27;253(5027):1503–1507. doi: 10.1126/science.1840702. [DOI] [PubMed] [Google Scholar]
  27. Ward R. H., Frazier B. L., Dew-Jager K., Päbo S. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720–8724. doi: 10.1073/pnas.88.19.8720. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Ward R. H., Redd A., Valencia D., Frazier B., Päbo S. Genetic and linguistic differentiation in the Americas. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10663–10667. doi: 10.1073/pnas.90.22.10663. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Weiss G., von Haeseler A. Estimating the age of the common ancestor of men from the ZFY intron. Science. 1996 May 31;272(5266):1359–1362. doi: 10.1126/science.272.5266.1359. [DOI] [PubMed] [Google Scholar]
  30. Zischler H., Geisert H., von Haeseler A., Päbo S. A nuclear 'fossil' of the mitochondrial D-loop and the origin of modern humans. Nature. 1995 Nov 30;378(6556):489–492. doi: 10.1038/378489a0. [DOI] [PubMed] [Google Scholar]

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