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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Jan;44(1):73–85.

Origin and differentiation of human mitochondrial DNA.

L Excoffier 1, A Langaney 1
PMCID: PMC1715476  PMID: 2562823

Abstract

A recent study of mitochondrial DNA (mtDNA) polymorphism has generated much debate about modern human origins by proposing the existence of an "African Eve" living 200,000 years ago somewhere in Africa. In an attempt to synthesize information concerning human mtDNA genetic polymorphism, all available data on mtDNA RFLP have been gathered. A phylogeny of the mtDNA types found in 10 populations reveals that all types could have issued from a single common ancestral type. The distribution of shared types between continental groups indicates that caucasoid populations could be the closest to an ancestral population from which all other continental groups would have diverged. A partial phylogeny of the types found in five other populations also demonstrates that the myth of an African Eden was based on an incorrect "genealogical tree" of mtDNA types. Two measures of molecular diversity have been computed on all samples on the basis of mtDNA type frequencies, on one hand, and on the basis of the number of polymorphic sites in the samples, on the other. A large discrepancy is found between the two measures except in African populations; this suggests the existence of some differential selective mechanisms. The lapse of time necessary for creating the observed molecular diversity from an ancestral monomorphic population has been calculated and is found generally greater in Oriental and caucasoid populations. Implications concerning human mtDNA evolution are discussed.

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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. Birky C. W., Jr, Maruyama T., Fuerst P. An approach to population and evolutionary genetic theory for genes in mitochondria and chloroplasts, and some results. Genetics. 1983 Mar;103(3):513–527. doi: 10.1093/genetics/103.3.513. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bonné-Tamir B., Johnson M. J., Natali A., Wallace D. C., Cavalli-Sforza L. L. Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level. Am J Hum Genet. 1986 Mar;38(3):341–351. [PMC free article] [PubMed] [Google Scholar]
  4. Brega A., Gardella R., Semino O., Morpurgo G., Astaldi Ricotti G. B., Wallace D. C., Santachiara Benerecetti A. S. Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA. Am J Hum Genet. 1986 Oct;39(4):502–512. [PMC free article] [PubMed] [Google Scholar]
  5. Brown W. M., George M., Jr, Wilson A. C. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci U S A. 1979 Apr;76(4):1967–1971. doi: 10.1073/pnas.76.4.1967. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Brown W. M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3605–3609. doi: 10.1073/pnas.77.6.3605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Brown W. M., Prager E. M., Wang A., Wilson A. C. Mitochondrial DNA sequences of primates: tempo and mode of evolution. J Mol Evol. 1982;18(4):225–239. doi: 10.1007/BF01734101. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Clayton D. A., Doda J. N., Friedberg E. C. The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria. Proc Natl Acad Sci U S A. 1974 Jul;71(7):2777–2781. doi: 10.1073/pnas.71.7.2777. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Darlu P., Tassy P. Disputed African origin of human populations. Nature. 1987 Sep 10;329(6135):111–112. doi: 10.1038/329111b0. [DOI] [PubMed] [Google Scholar]
  11. Delson E. Palaeoanthropology. One source not many. Nature. 1988 Mar 17;332(6161):206–206. doi: 10.1038/332206a0. [DOI] [PubMed] [Google Scholar]
  12. Eckhardt R. B. Evolution east of Eden. Nature. 1987 Apr 23;326(6115):749–749. doi: 10.1038/326749a0. [DOI] [PubMed] [Google Scholar]
  13. Ewens W. J. The sampling theory of selectively neutral alleles. Theor Popul Biol. 1972 Mar;3(1):87–112. doi: 10.1016/0040-5809(72)90035-4. [DOI] [PubMed] [Google Scholar]
  14. Greenberg B. D., Newbold J. E., Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 1983 Jan-Feb;21(1-2):33–49. doi: 10.1016/0378-1119(83)90145-2. [DOI] [PubMed] [Google Scholar]
  15. Harihara S., Hirai M., Omoto K. Mitochondrial DNA polymorphism in Japanese living in Hokkaido. Jinrui Idengaku Zasshi. 1986 Jun;31(2):73–83. doi: 10.1007/BF01871401. [DOI] [PubMed] [Google Scholar]
  16. Horai S., Gojobori T., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition. Hum Genet. 1984;68(4):324–332. doi: 10.1007/BF00292594. [DOI] [PubMed] [Google Scholar]
  17. Horai S., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet. 1986 Feb;72(2):105–117. doi: 10.1007/BF00283927. [DOI] [PubMed] [Google Scholar]
  18. Johnson M. J., Wallace D. C., Ferris S. D., Rattazzi M. C., Cavalli-Sforza L. L. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. doi: 10.1007/BF02099973. [DOI] [PubMed] [Google Scholar]
  19. Monnat R. J., Jr, Loeb L. A. Nucleotide sequence preservation of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1985 May;82(9):2895–2899. doi: 10.1073/pnas.82.9.2895. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Monnat R. J., Jr, Reay D. T. Nucleotide sequence identity of mitochondrial DNA from different human tissues. Gene. 1986;43(3):205–211. doi: 10.1016/0378-1119(86)90208-8. [DOI] [PubMed] [Google Scholar]
  21. Nei M., Roychoudhury A. K. Genic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids. Am J Hum Genet. 1974 Jul;26(4):421–443. [PMC free article] [PubMed] [Google Scholar]
  22. Nei M., Tajima F. DNA polymorphism detectable by restriction endonucleases. Genetics. 1981 Jan;97(1):145–163. doi: 10.1093/genetics/97.1.145. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Saitou N., Omoto K. Time and place of human origins from mt DNA data. 1987 May 28-Jun 3Nature. 327(6120):288–288. doi: 10.1038/327288a0. [DOI] [PubMed] [Google Scholar]
  24. Sanchez-Mazas A., Langaney A. Common genetic pools between human populations. Hum Genet. 1988 Feb;78(2):161–166. doi: 10.1007/BF00278189. [DOI] [PubMed] [Google Scholar]
  25. Stringer C. B., Andrews P. Genetic and fossil evidence for the origin of modern humans. Science. 1988 Mar 11;239(4845):1263–1268. doi: 10.1126/science.3125610. [DOI] [PubMed] [Google Scholar]
  26. Stringer C. Palaeoanthropology. The dates of Eden. Nature. 1988 Feb 18;331(6157):565–566. doi: 10.1038/331565a0. [DOI] [PubMed] [Google Scholar]
  27. Takahata N., Nei M. Gene genealogy and variance of interpopulational nucleotide differences. Genetics. 1985 Jun;110(2):325–344. doi: 10.1093/genetics/110.2.325. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Wainscoat J. S., Hill A. V., Boyce A. L., Flint J., Hernandez M., Thein S. L., Old J. M., Lynch J. R., Falusi A. G., Weatherall D. J. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. doi: 10.1038/319491a0. [DOI] [PubMed] [Google Scholar]
  29. Wainscoat J. Human evolution. Out of the garden of Eden. Nature. 1987 Jan 1;325(6099):13–13. doi: 10.1038/325013a0. [DOI] [PubMed] [Google Scholar]
  30. Wallace D. C., Garrison K., Knowler W. C. Dramatic founder effects in Amerindian mitochondrial DNAs. Am J Phys Anthropol. 1985 Oct;68(2):149–155. doi: 10.1002/ajpa.1330680202. [DOI] [PubMed] [Google Scholar]
  31. Watterson G. A., Guess H. A. Is the most frequent allele the oldest? Theor Popul Biol. 1977 Apr;11(2):141–160. doi: 10.1016/0040-5809(77)90023-5. [DOI] [PubMed] [Google Scholar]
  32. Watterson G. A. On the number of segregating sites in genetical models without recombination. Theor Popul Biol. 1975 Apr;7(2):256–276. doi: 10.1016/0040-5809(75)90020-9. [DOI] [PubMed] [Google Scholar]
  33. Whittam T. S., Clark A. G., Stoneking M., Cann R. L., Wilson A. C. Allelic variation in human mitochondrial genes based on patterns of restriction site polymorphism. Proc Natl Acad Sci U S A. 1986 Dec;83(24):9611–9615. doi: 10.1073/pnas.83.24.9611. [DOI] [PMC free article] [PubMed] [Google Scholar]

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