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Mitochondrial genome variation and the origin of modern humans

A Corrigendum to this article was published on 29 March 2001

Abstract

The analysis of mitochondrial DNA (mtDNA) has been a potent tool in our understanding of human evolution, owing to characteristics such as high copy number, apparent lack of recombination1, high substitution rate2 and maternal mode of inheritance3. However, almost all studies of human evolution based on mtDNA sequencing have been confined to the control region, which constitutes less than 7% of the mitochondrial genome. These studies are complicated by the extreme variation in substitution rate between sites, and the consequence of parallel mutations4 causing difficulties in the estimation of genetic distance and making phylogenetic inferences questionable5. Most comprehensive studies of the human mitochondrial molecule have been carried out through restriction-fragment length polymorphism analysis6, providing data that are ill suited to estimations of mutation rate and therefore the timing of evolutionary events. Here, to improve the information obtained from the mitochondrial molecule for studies of human evolution, we describe the global mtDNA diversity in humans based on analyses of the complete mtDNA sequence of 53 humans of diverse origins. Our mtDNA data, in comparison with those of a parallel study of the Xq13.3 region7 in the same individuals, provide a concurrent view on human evolution with respect to the age of modern humans.

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Figure 1: The relationship between linkage disequilibrium, measured by |D ′| versus distance between nucleotide sites for all 53 complete human mtDNA genomes.
Figure 2: Neighbour-joining phylogram based on complete mtDNA genome sequences (excluding the D-loop).
Figure 3: Mismatch distributions of pairwise nucleotide differences between mtDNA genomes (excluding the D-loop).
Figure 4: Data matrices showing all informative nucleotide positions, in decreasing order of frequency.

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Acknowledgements

We thank M. Stoneking for his advice regarding the analysis of recombination, and L. Cavalli-Sforza, G. Destro-Bisol, L. Excoffier, T. Jenkins, K. Kidd, J. Kidd, G. Klein, R. Mahabeer, V. Nasidze, E. Poloni, H. Soodyall, M. Stoneking, M. Voevoda and S. Wells for scmples. This work was supported by grants from Swedish Natural Sciences Research Council and Beijer Foundation.

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Correspondence to Ulf Gyllensten.

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Ingman, M., Kaessmann, H., Pääbo, S. et al. Mitochondrial genome variation and the origin of modern humans. Nature 408, 708–713 (2000). https://doi.org/10.1038/35047064

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