title: A "Copernican" reassessment of the human mitochondrial DNA tree from its root.
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.
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu, Estonia. behardm@usernet.com
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.forename: Saharon
authors.initials: S
authors.lastname: Rosset
authors.forename: Mait
authors.initials: M
authors.lastname: Metspalu
authors.forename: Eva-Liis
authors.initials: EL
authors.lastname: Loogväli
authors.forename: Nuno M
authors.initials: NM
authors.lastname: Silva
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
mesh_terms: D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D004272:DNA, Mitochondrial / Q000145:classification* / Q000235:genetics*; D030541:Databases, Genetic; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D059125:Neanderthals / Q000235:genetics; D010802:Phylogeny
chemical_list: D004272:DNA, Mitochondrial