Skip to main content
PMC home page
Genetics logoLink to Genetics
. 1996 Apr;142(4):1321–1334. doi: 10.1093/genetics/142.4.1321

Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders

C J Kolman 1, N Sambuughin 1, E Bermingham 1
PMCID: PMC1207128  PMID: 8846908

Abstract

High levels of mitochondrial DNA (mtDNA) diversity were determined for Mongolian populations, represented by the Mongol-speaking Khalkha and Dariganga. Although 103 samples were collected across Mongolia, low levels of genetic substructuring were detected, reflecting the nomadic lifestyle and relatively recent ethnic differentiation of Mongolian populations. mtDNA control region I sequence and seven additional mtDNA polymorphisms were assayed to allow extensive comparison with previous human population studies. Based on a comparative analysis, we propose that indigenous populations in east Central Asia represent the closest genetic link between Old and New World populations. Utilizing restriction/deletion polymorphisms, Mongolian populations were found to carry all four New World founding haplogroups as defined by WALLACE and coworkers. The ubiquitous presence of the four New World haplogroups in the Americas but narrow distribution across Asia weakens support for GREENBERG and coworkers' theory of New World colonization via three independent migrations. The statistical and geographic scarcity of New World haplogroups in Asia makes it improbable that the same four haplotypes would be drawn from one geographic region three independent times. Instead, it is likely that founder effects manifest throughout Asia and the Americas are responsible for differences in mtDNA haplotype frequencies observed in these regions.

Full Text

The Full Text of this article is available as a PDF (1.4 MB).

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. Bailliet G., Rothhammer F., Carnese F. R., Bravi C. M., Bianchi N. O. Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet. 1994 Jul;55(1):27–33. [PMC free article] [PubMed] [Google Scholar]
  3. Ballinger S. W., Schurr T. G., Torroni A., Gan Y. Y., Hodge J. A., Hassan K., Chen K. H., Wallace D. C. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics. 1992 Jan;130(1):139–152. doi: 10.1093/genetics/130.1.139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. 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]
  5. Excoffier L., Langaney A. Origin and differentiation of human mitochondrial DNA. Am J Hum Genet. 1989 Jan;44(1):73–85. [PMC free article] [PubMed] [Google Scholar]
  6. Excoffier L., Smouse P. E., Quattro J. M. Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics. 1992 Jun;131(2):479–491. doi: 10.1093/genetics/131.2.479. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Ginther C., Corach D., Penacino G. A., Rey J. A., Carnese F. R., Hutz M. H., Anderson A., Just J., Salzano F. M., King M. C. Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. EXS. 1993;67:211–219. doi: 10.1007/978-3-0348-8583-6_17. [DOI] [PubMed] [Google Scholar]
  8. Hertzberg M., Mickleson K. N., Serjeantson S. W., Prior J. F., Trent R. J. An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. Am J Hum Genet. 1989 Apr;44(4):504–510. [PMC free article] [PubMed] [Google Scholar]
  9. Horai S., Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed] [Google Scholar]
  10. Horai S., Kondo R., Nakagawa-Hattori Y., Hayashi S., Sonoda S., Tajima K. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol. 1993 Jan;10(1):23–47. doi: 10.1093/oxfordjournals.molbev.a039987. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. Maloney E. M., Biggar R. J., Neel J. V., Taylor M. E., Hahn B. H., Shaw G. M., Blattner W. A. Endemic human T cell lymphotropic virus type II infection among isolated Brazilian Amerindians. J Infect Dis. 1992 Jul;166(1):100–107. doi: 10.1093/infdis/166.1.100. [DOI] [PubMed] [Google Scholar]
  13. Merriwether D. A., Rothhammer F., Ferrell R. E. Distribution of the four founding lineage haplotypes in Native Americans suggests a single wave of migration for the New World. Am J Phys Anthropol. 1995 Dec;98(4):411–430. doi: 10.1002/ajpa.1330980404. [DOI] [PubMed] [Google Scholar]
  14. Neel J. V., Biggar R. J., Sukernik R. I. Virologic and genetic studies relate Amerind origins to the indigenous people of the Mongolia/Manchuria/southeastern Siberia region. Proc Natl Acad Sci U S A. 1994 Oct 25;91(22):10737–10741. doi: 10.1073/pnas.91.22.10737. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Nei M., Roychoudhury A. K. Evolutionary relationships of human populations on a global scale. Mol Biol Evol. 1993 Sep;10(5):927–943. doi: 10.1093/oxfordjournals.molbev.a040059. [DOI] [PubMed] [Google Scholar]
  16. Nei M., Roychoudhury A. K. Sampling variances of heterozygosity and genetic distance. Genetics. 1974 Feb;76(2):379–390. doi: 10.1093/genetics/76.2.379. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. 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]
  18. Sambuugiin N., Petrishchev V. N., Rychkov Iu G. Polimorfizm DNK v naselenii Mongolii. Analiz polimorfizma dlin restriktsionnykh fragmentov DNK v semi lokusakh iadernogo genoma. Genetika. 1991 Dec;27(12):2137–2142. [PubMed] [Google Scholar]
  19. 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]
  20. Shields G. F., Hecker K., Voevoda M. I., Reed J. K. Absence of the Asian-specific region V mitochondrial marker in Native Beringians. Am J Hum Genet. 1992 Apr;50(4):758–765. [PMC free article] [PubMed] [Google Scholar]
  21. 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]
  22. Torroni A., Miller J. A., Moore L. G., Zamudio S., Zhuang J., Droma T., Wallace D. C. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol. 1994 Feb;93(2):189–199. doi: 10.1002/ajpa.1330930204. [DOI] [PubMed] [Google Scholar]
  23. 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]
  24. 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]
  25. Turner C. G., 2nd Advances in the dental search for Native American origins. Acta Anthropogenet. 1984;8(1-2):23–78. [PubMed] [Google Scholar]
  26. Vigilant L., Pennington R., Harpending H., Kocher T. D., Wilson A. C. Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9350–9354. doi: 10.1073/pnas.86.23.9350. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. 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]
  28. 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]
  29. 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]
  30. 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]

Articles from Genetics are provided here courtesy of Oxford University Press

RESOURCES