Evidence for mitochondrial DNA recombination in a human population of island Melanesia

E. Hagelberg, N. Goldman, P. Lió, S. Whelan, W. Schiefenhövel, J. B. Clegg, D. K. Bowden

    Research output: Contribution to journalArticlepeer-review


    Mitochondrial DNA (mtDNA) analysis has proved useful in studies of recent human evolution and the genetic affinities of human groups of different geographical regions. As part of an extensive survey of mtDNA diversity in present-day Pacific populations, we obtained sequence information of the hypervariable mtDNA control region of 452 individuals from various localities in the western Pacific. The mtDNA types fell into three major groups which reflect the settlement history of the area. Interestingly, we detected an extremely rare point mutation at high frequency in the small island of Nguna in the Melanesian archipelago of Vanuatu. Phylogenetic analysis of the mtDNA data indicated that the mutation was present in individuals of separate mtDNA lineages. We propose that the multiple occurrence of a rare mutation event in one isolated locality is highly improbable, and that recombination between different mtDNA types is a more likely explanation for our observation. If correct, this conclusion has important implications for the use of mtDNA in phylogenetic and evolutionary studies.
    Original languageEnglish
    Pages (from-to)485-492
    Number of pages7
    JournalProceedings of the Royal Society B: Biological Sciences
    Issue number1418
    Publication statusPublished - 7 Mar 1999


    • Human evolution
    • Melanesia
    • Mitochondrial DNA
    • Polynesia
    • Population genetics
    • Recombination


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