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

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, forens...

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Bibliographic Details
Published in:	American journal of human genetics 2012-04, Vol.90 (4), p.675-684
Main Authors:	Behar, Doron M., van Oven, Mannis, Rosset, Saharon, Metspalu, Mait, Loogväli, Eva-Liis, Silva, Nuno M., Kivisild, Toomas, Torroni, Antonio, Villems, Richard
Format:	Article
Language:	eng
Subjects:	Animals Base Sequence Biological and medical sciences Biological Evolution Cores Databases, Genetic DNA, Mitochondrial - classification DNA, Mitochondrial - genetics Evolution Forensic science Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genomics Haplotypes Hominids Homo neanderthalensis Humans Medical genetics Medical sciences Mitochondrial DNA Molecular and cellular biology Molecular Sequence Data Mutation Neanderthals - genetics Perception Phylogenetics Phylogeny Population genetics Roots
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Summary:	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.
ISSN:	0002-9297 1537-6605