Journal of Molecular Evolution

, Volume 33, Issue 6, pp 543–555

The structure of human mitochondrial DNA variation

  • D. Andrew Merriwether
  • Andrew G. Clark
  • Scott W. Ballinger
  • Theodore G. Schurr
  • Himla Soodyall
  • Trefor Jenkins
  • Stephen T. Sherry
  • Douglas C. Wallace
Article

DOI: 10.1007/BF02102807

Cite this article as:
Merriwether, D.A., Clark, A.G., Ballinger, S.W. et al. J Mol Evol (1991) 33: 543. doi:10.1007/BF02102807

Summary

Restriction analysis of mitochondrial DNA (mtDNA) of 3065 humans from 62 geographic samples identified 149 haplotypes and 81 polymorphic sites. These data were used to test several aspects of the evolutionary past of the human species. A dendrogram depicting the genetic relatedness of all haplotypes shows that the native African populations have the greatest diversity and, consistent with evidence from a variety of sources, suggests an African origin for our species. The data also indicate that two individuals drawn, at random from the entire sample will differ at approximately 0.4% of their mtDNA nucleotide sites, which is somewhat higher than previous estimates. Human mtDNA also exhibits more interpopulation heterogeneity (GST=0.351±0.025) than does nuclear DNA (GST=0.12). Moreover, the virtual absence of intermediate levels of linkage disequilibrium between pairs of sites is consistent with the absence of genetic recombination and places constraints on the rate of mutation. Tests of the selective neutrality of mtDNA variation, including the Ewens-Watterson and Tajima tests, indicate a departure in the direction consistent with purifying selection, but this departure is more likely due to the rapid growth of the human population and the geographic heterogeneity of the variation. The lack of a good fit to neutrality poses problems for the estimation of times of coalescence from human mtDNA data.

Key words

Mitochondrial DNAHuman evolutionPopulation geneticsMolecular anthropology

Copyright information

© Springer-Verlag New York Inc 1991

Authors and Affiliations

  • D. Andrew Merriwether
    • 1
  • Andrew G. Clark
    • 2
  • Scott W. Ballinger
    • 3
  • Theodore G. Schurr
    • 3
  • Himla Soodyall
    • 4
    • 5
  • Trefor Jenkins
    • 4
    • 5
  • Stephen T. Sherry
    • 6
  • Douglas C. Wallace
    • 3
  1. 1.Department of Human Genetics, School of Public HealthUniversity of PittsburghPittsburghUSA
  2. 2.Department of Biology and Institute of Molecular Evolutionary GeneticsPennsylvania State UniversityUniversity ParkUSA
  3. 3.Center for Genetics and Molecular MedicineEmory University School of Medicine, Rollins Research CenterAtlantaUSA
  4. 4.MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of PathologySouth African Institute for Medical ResearchJohannesburgSouth Africa
  5. 5.the University of the WitwatersrandJohannesburgSouth Africa
  6. 6.Department of AnthropologyPennsylvania State UniversityUniversity ParkUSA