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.
Source (Open Access)
Some quotes and figures from the paper:
"Supported by a consensus of many colleagues and after a few years of hesitation, we have reached the conclusion that on the verge of the deep-sequencing revolution (47,55) when perhaps tens of thousands of additional complete mtDNA sequences are expected to be generated over the next few years, the principal change we suggest cannot be postponed any longer: an ancestral rather than a ‘‘phylogenetically peripheral’’ and modern mitogenome from Europe should serve as the epicenter of the human mtDNA reference system."
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"Interestingly, the ranges of substitution counts within haplogroups M and N, which are hallmarks of the relatively recent out-of-Africa exodus of humans, are also very large. For example, within M there are two mitogenomes with 43 substitutions (in M30a and M44) and two mitogenomes with as many as 71 substitutions (in M2b1b and M7b3a). This is especially striking because the path from the RSRS to the root of M already contains 39 substitutions. Hence, the difference between the M root and its M44 descendant is only four substitutions (two in the coding region and two in the control region) as compared to 32 substitutions in the M2b1b and M7b3a mitogenomes. These observations raise the possibility that the tree in general, and haplogroup M in particular, might not adhere uniformly to the assumed molecular clock, under which substitutions occur at a fixed rate on all branches of the tree over time."
Some inferred dates of interest (from the supplemental file):
L3 : 67,262 (SD 4,434)
M : 49,590 (SD 1,824)
M1'20'51 : 47,641 (SD 2,851)
M1 : 23,680 (SD 4,378)
M1a : 19,183 (SD 3,226)
M1a1 : 12,910 (SD 3,341)
N : 58,860 (SD 2,352)
N1'5 : 56,547 (SD 4,705)
N1 : 51,643 (SD 5,640)
N1a : 18,118 (SD 5,247)
Others;
R0a1 : 20,766 (SD 5,754)
U6a1 : 20,133 (SD 4,941)
J1 : 26,935 (SD 5,273)
T : 25,149 (SD 4,668)
K : 26,682 (SD 4,339)
Source (Open Access)
Some quotes and figures from the paper:
"Supported by a consensus of many colleagues and after a few years of hesitation, we have reached the conclusion that on the verge of the deep-sequencing revolution (47,55) when perhaps tens of thousands of additional complete mtDNA sequences are expected to be generated over the next few years, the principal change we suggest cannot be postponed any longer: an ancestral rather than a ‘‘phylogenetically peripheral’’ and modern mitogenome from Europe should serve as the epicenter of the human mtDNA reference system."
"Interestingly, the ranges of substitution counts within haplogroups M and N, which are hallmarks of the relatively recent out-of-Africa exodus of humans, are also very large. For example, within M there are two mitogenomes with 43 substitutions (in M30a and M44) and two mitogenomes with as many as 71 substitutions (in M2b1b and M7b3a). This is especially striking because the path from the RSRS to the root of M already contains 39 substitutions. Hence, the difference between the M root and its M44 descendant is only four substitutions (two in the coding region and two in the control region) as compared to 32 substitutions in the M2b1b and M7b3a mitogenomes. These observations raise the possibility that the tree in general, and haplogroup M in particular, might not adhere uniformly to the assumed molecular clock, under which substitutions occur at a fixed rate on all branches of the tree over time."
Some inferred dates of interest (from the supplemental file):
L3 : 67,262 (SD 4,434)
M : 49,590 (SD 1,824)
M1'20'51 : 47,641 (SD 2,851)
M1 : 23,680 (SD 4,378)
M1a : 19,183 (SD 3,226)
M1a1 : 12,910 (SD 3,341)
N : 58,860 (SD 2,352)
N1'5 : 56,547 (SD 4,705)
N1 : 51,643 (SD 5,640)
N1a : 18,118 (SD 5,247)
Others;
R0a1 : 20,766 (SD 5,754)
U6a1 : 20,133 (SD 4,941)
J1 : 26,935 (SD 5,273)
T : 25,149 (SD 4,668)
K : 26,682 (SD 4,339)
