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Mitochondrial genome variation and the origin of modern humans

Author

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  • Max Ingman

    (Rudbeck Laboratory, University of Uppsala)

  • Henrik Kaessmann

    (Max Planck Institute for Evolutionary Anthropology)

  • Svante Pääbo

    (Max Planck Institute for Evolutionary Anthropology)

  • Ulf Gyllensten

    (Rudbeck Laboratory, University of Uppsala)

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.

Suggested Citation

  • Max Ingman & Henrik Kaessmann & Svante Pääbo & Ulf Gyllensten, 2000. "Mitochondrial genome variation and the origin of modern humans," Nature, Nature, vol. 408(6813), pages 708-713, December.
    • Handle: RePEc:nat:nature:v:408:y:2000:i:6813:d:10.1038_35047064
    DOI: 10.1038/35047064
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    Cited by:

    1. Bhaba Amatya, 2021. "DNA Barcoding of Cyprinid Fish Chagunius chagunio Hamilton,1822 from Phewa Lake, Nepal," International Journal of Biology, Canadian Center of Science and Education, vol. 11(4), pages 1-88, December.
    2. Ricardo Kanitz & Elsa G Guillot & Sylvain Antoniazza & Samuel Neuenschwander & Jérôme Goudet, 2018. "Complex genetic patterns in human arise from a simple range-expansion model over continental landmasses," PLOS ONE, Public Library of Science, vol. 13(2), pages 1-16, February.
    3. McEvoy, Brian P. & Visscher, Peter M., 2009. "Genetics of human height," Economics & Human Biology, Elsevier, vol. 7(3), pages 294-306, December.
    4. Jody Hey, 2005. "On the Number of New World Founders: A Population Genetic Portrait of the Peopling of the Americas," PLOS Biology, Public Library of Science, vol. 3(6), pages 1-1, May.

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