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MBE Advance Access published online on April 15, 2009
Molecular Biology and Evolution, doi:10.1093/molbev/msp073
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© The Author 2009. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Letter

Can Indirect Tests Detect a Known Recombination Event in Human mtDNA?

Daniel James White and Neil John Gemmell

University of Otago, New Zealand (both authors)

Corresponding author: Daniel James White, Centre for Reproduction and Genomics, Department of Anatomy and Structural Biology, University of Otago, Dunedin 9054, PO Box 913, New Zealand, email: daniel.white{at}otago.ac.nz, phone: +64 (0) 3 479 5283, fax: +64 (0) 3 479 7254

Received for publication March 11, 2009. Accepted for publication April 7, 2009.

Whether human mtDNA recombines sufficiently to influence its evolution, evolutionary analysis and disease etiology, remains equivocal. Overall, evidence from indirect studies of population genetic data suggests recombination is not occurring at detectable levels. This may be explained by no, or low, recombination or, alternatively, current indirect tests may be incapable of detecting recombination in human mtDNA. To investigate the latter, we have tested whether six well established indirect tests of recombination could detect recombination in a human mtDNA data set, in which its occurrence had been empirically confirmed. Three showed statistical evidence for recombination (r2 vs distance, the Homoplasy test, NSS), and three did not (D’ vs distance, Max Chi Squared, PHI). Possible reasons for detection failure are discussed. Further, evidence from earlier studies suggesting a lack of recombination in mtDNA in humans is reconsidered, taking into account the appropriateness of the tests used, based on our new findings.

Key Words: Recombination • Indirect • Detection • mtDNA • human


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