A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root
A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root
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DOI：
10.1016/j.ajhg.2012.03.002
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发表时间：
2012-04-06
影响因子：
9.8
通讯作者：
Villems, Richard
中科院分区：
文献类型：
--
作者：
Behar, Doron M.;van Oven, Mannis;Villems, Richard
传统上，人类 mtDNA 系统发育中的突变事件是相对于修订后的剑桥参考序列（1981 年出版的当代欧洲序列）来确定的。这种历史选择是医学、法医和群体遗传学研究中不一致、误解和错误的持续根源。在这里，通过添加来自 8,216 个现代线粒体基因组的信息，将人类 mtDNA 系统发育细化到前所未有的水平后，我们建议将参考文献切换到重建智人参考序列，该序列是通过考虑尼安德特人所有可用的线粒体基因组来确定的。这种从最深处对人类线粒体DNA树进行的“哥白尼式”重新评估应该可以解决以前的问题，并将通过阐明现有后代共同祖先的核心原则，对人类进化的科学和公众认知产生重大的实践和教育影响。
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.