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Cell Press, American Journal of Human Genetics, 5(90), p. 936, 2012

DOI: 10.1016/j.ajhg.2012.04.007

Cell Press, American Journal of Human Genetics, 4(90), p. 675-684, 2012

DOI: 10.1016/j.ajhg.2012.03.002

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A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

Journal article published in 2012 by Doron M. Behar, Mannis van Oven, Saharon Rosset, Mait Metspalu ORCID, Eva-Liis Loogväli, Nuno M. Silva, Toomas Kivisild ORCID, Antonio Torroni, Richard Villems
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Abstract

Mutational events along the human mtDNA phylogeny are traditionally identified relative to the revised Cambridge Reference Sequence, a contemporary European sequence published in 1981. This historical choice is a continuous source of inconsistencies, misinterpretations, and errors in medical, forensic, and population genetic studies. Here, after having refined the human mtDNA phylogeny to an unprecedented level by adding information from 8,216 modern mitogenomes, we propose switching the reference to a Reconstructed Sapiens Reference Sequence, which was identified by considering all available mitogenomes from Homo neanderthalensis. This “Copernican” reassessment of the human mtDNA tree from its deepest root should resolve previous problems and will have a substantial practical and educational influence on the scientific and public perception of human evolution by clarifying the core principles of common ancestry for extant descendants.