This website is released in conjunction with the paper entitled:
A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root.
Mutational events along the human mitochondrial DNA (mtDNA) phylogeny are traditionally
identified relative to the revised Cambridge Reference Sequence (rCRS), 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 (RSRS), which was identified
by considering all available mitogenomes from Homo neanderthalensis.
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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.
American Journal of Human Genetics.
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