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

被引:350
作者
Behar, Doron M. [1 ,2 ,3 ]
van Oven, Mannis [4 ]
Rosset, Saharon [5 ]
Metspalu, Malt [1 ,2 ]
Loogvali, Eva-Liis [1 ,2 ]
Silva, Nuno M. [6 ]
Kivisild, Toomas [1 ,2 ,7 ]
Torroni, Antonio [8 ]
Villems, Richard [1 ,2 ,9 ]
机构
[1] Univ Tartu, Estonian Bioctr, EE-51010 Tartu, Estonia
[2] Univ Tartu, Dept Evolutionary Biol, EE-51010 Tartu, Estonia
[3] Rambam Hlth Care Campus, Mol Med Lab, IL-31096 Haifa, Israel
[4] Univ Med Ctr Rotterdam, Erasmus MC, Dept Forens Mol Biol, NL-3000 CA Rotterdam, Netherlands
[5] Tel Aviv Univ, Sch Math Sci, Dept Stat & Operat Res, IL-69978 Tel Aviv, Israel
[6] Univ Porto, Inst Patol & Imunol Mol, P-4200465 Oporto, Portugal
[7] Univ Cambridge, Dept Biol Anthropol, Cambridge CB2 1QH, England
[8] Univ Pavia, Dipartimento Biol & Biotecnol L Spallanzani, I-27100 Pavia, Italy
[9] Estonian Acad Sci, EE-10130 Tallinn, Estonia
关键词
GENETIC ANCESTRY; MTDNA VARIATION; Y-CHROMOSOME; SEQUENCE; EVOLUTION; SELECTION; REVEALS; HETEROPLASMY; REGION;
D O I
10.1016/j.ajhg.2012.03.002
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:675 / 684
页数:10
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