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

Behar, Doron M., van Oven, Mannis, Rosset, Saharon, Metspalu, Mait, Loogväli, Eva-Liis, Silva, Nuno M., Kivisild, Toomas, Torroni, Antonio, Villems, Richard·2012·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2012.03.002
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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.

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Metadata

Authors
Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N. M., Kivisild, T., Torroni, A., & Villems, R.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2012-04
Volume
90
Issue
4
Pages
675-684
ISSN
0002-9297
DOI
10.1016/j.ajhg.2012.03.002
Cited by
471
References
4
Language
en
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CoChat. (2026). Citation check: A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root. https://app.cochat.ai/papers/10.1016/j.ajhg.2012.03.002
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Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E.-L., Silva, N. M., Kivisild, T., Torroni, A., & Villems, R. (2012). A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.03.002

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