@article{601487256a9047bf91f0812b20b72ba4,
title = "A {"}copernican{"} reassessment of the human mitochondrial DNA tree from its root",
abstract = "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.",
author = "Behar, \{Doron M.\} and \{Van Oven\}, Mannis and Saharon Rosset and Mait Metspalu and Loogv{\"a}li, \{Eva Liis\} and Silva, \{Nuno M.\} and Toomas Kivisild and Antonio Torroni and Richard Villems",
note = "Funding Information: We thank the genealogical community for donating their privately obtained complete mtDNA sequences for scientific studies and FamilyTreeDNA for compiling the data. We thank FamilyTreeDNA for supporting the establishment of the herein released website. We thank Eileen Krauss-Murphy of FamilyTreeDNA for help with assembly of the database. We thank Rebekah Canada and William R. Hurst for help with the assembly of haplogroup H and K samples, respectively. R.V. and D.M.B. thank the European Commission, Directorate-General for Research for FP7 Ecogene grant 205419. D.M.B. is a shareholder of FamilyTreeDNA and a member of its scientific advisory board. R.V. and M.M. thank the European Union, Regional Development Fund for a Centre of Excellence in Genomics grant, and R.V. thanks the Swedish Collegium for Advanced Studies for support during the initial stage of this study. M.M. thanks Estonian Science Foundation for grant 8973. A.T. received support from Fondazione Alma Mater Ticinensis and the Italian Ministry of Education, University and Research: Progetti Ricerca Interesse Nazionale 2009. S.R. thanks the Israeli Science Foundation for grant 1227/09 and IBM for an Open Collaborative Research grant. FCT, the Portuguese Foundation for Science and Technology, partially supported this work through the personal grant N.M.S. (SFRH/BD/69119/2010). Instituto de Patologia e Imunologia Molecular da Universidade do Porto is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education and is partially supported by the Portuguese Foundation for Science and Technology.",
year = "2012",
month = apr,
day = "6",
doi = "10.1016/j.ajhg.2012.03.002",
language = "الإنجليزيّة",
volume = "90",
pages = "675--684",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}