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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
The structure of human mitochondrial DNA variation
Journal of Molecular Evolution, Volume 33, No. 6, Year 1991
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Description
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. © 1991 Springer-Verlag New York Inc.
Authors & Co-Authors
Merriwether, D. Andrew
United States, Pittsburgh
University of Pittsburgh Graduate School of Public Health
Clark, Andrew G.
United States, University Park
Pennsylvania State University
Ballinger, Scott W.
United States, Atlanta
Emory University School of Medicine
Schurr, Theodore G.
United States, Atlanta
Emory University School of Medicine
Soodyall, Himla
South Africa, Johannesburg
School of Pathology
South Africa, Johannesburg
University of the Witwatersrand
Jenkins, Trefor
South Africa, Johannesburg
School of Pathology
South Africa, Johannesburg
University of the Witwatersrand
Sherry, Stephen T.
United States, University Park
Pennsylvania State University
Wallace, Douglas C.
United States, Atlanta
Emory University School of Medicine
Statistics
Citations: 141
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1007/BF02102807
ISSN:
00222844
e-ISSN:
14321432
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study