A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
Doron M. Behar1, 2, 
, 
, Mannis van Oven3, , , Saharon Rosset4, Mait Metspalu1, Eva-Liis Loogväli1, Nuno M. Silva5, Toomas Kivisild1, 6, Antonio Torroni7 and Richard Villems1, 8
, , Mannis van Oven3, , , Saharon Rosset4, Mait Metspalu1, Eva-Liis Loogväli1, Nuno M. Silva5, Toomas Kivisild1, 6, Antonio Torroni7 and Richard Villems1, 8
1 Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia
2 Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel
3 Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
4 Department of Statistics and Operations Research, School of Mathematical Sciences, Tel Aviv University, Tel Aviv 69978, Israel
5 Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto 4200-465, Portugal
6 Department of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK
7 Dipartimento di Biologia e Biotecnologie “L. Spallanzani,” Università di Pavia, Pavia 27100, Italy
8 Estonian Academy of Sciences, 6 Kohtu Street, Tallinn 10130, Estonia
Corresponding authorCorresponding author
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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