A "copernican" reassessment of the human mitochondrial DNA tree from its root

Doron M. Behar*, Mannis Van Oven, Saharon Rosset, Mait Metspalu, Eva Liis Loogväli, Nuno M. Silva, Toomas Kivisild, Antonio Torroni, Richard Villems

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)675-684
Number of pages10
JournalAmerican Journal of Human Genetics
Volume90
Issue number4
DOIs
StatePublished - 6 Apr 2012

Funding

FundersFunder number
FP7 Ecogene
Fondazione Alma Mater Ticinensis
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Swedish Collegium for Advanced Studies
International Business Machines Corporation
Seventh Framework Programme205419
European Commission
Eesti Teadusfondi8973
Fundação para a Ciência e a TecnologiaSFRH/BD/69119/2010
Ministero dell’Istruzione, dell’Università e della Ricerca
Israel Science Foundation1227/09
Ministerstwo Edukacji i Nauki

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