A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA

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PostPosted: Thu Apr 05, 2012 7:47 pm
A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA Tree from its Root // The American Journal of Human Genetics 90, 675–684, April 6, 2012

Behar et al.

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.

http://download.cell.com/AJHG/pdf/PIIS0 ... diate=true
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R1b-M157.2 (under Z6
PostPosted: Thu Apr 05, 2012 11:04 pm
Great article, and a great rationale for re-assessing the "reference sequence" for mt-DNA. In addition, many new mtDNA subclades have been published.
Y Haplogroup: R1b - U106 - L48 - Z8 - Z6 - M157.2 (private sub-clade of Z6). 111 markers tested, Palindromic markers tested
mt Haplogroup J1c2g Full Mitochondrial test with an additional (private) mutation at 9974T
YSearch & Mitosearch ID: 3HSPN

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