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TY - JOUR AU - Merriwether, D. Andrew AU - Clark, Andrew G. AU - Ballinger, Scott W. AU - Schurr, Theodore G. AU - Soodyall, Himla AU - Jenkins, Trefor AU - Sherry, Stephen T. AU - Wallace, Douglas C. PY - 1991 DA - 1991/12/01 TI - The structure of human mitochondrial DNA variation JO - Journal of Molecular Evolution SP - 543 EP - 555 VL - 33 IS - 6 AB - 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. SN - 1432-1432 UR - https://doi.org/10.1007/BF02102807 DO - 10.1007/BF02102807 ID - Merriwether1991 ER -