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

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, forens... Full description

Journal Title: American journal of human genetics 2012-04-06, Vol.90 (4), p.675-684
Main Author: Behar, Doron M
Other Authors: van Oven, Mannis , Rosset, Saharon , Metspalu, Mait , Loogväli, Eva-Liis , Silva, Nuno M , Kivisild, Toomas , Torroni, Antonio , Villems, Richard
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Cambridge, MA: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3322232
title: A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
format: Article
creator:
  • Behar, Doron M
  • van Oven, Mannis
  • Rosset, Saharon
  • Metspalu, Mait
  • Loogväli, Eva-Liis
  • Silva, Nuno M
  • Kivisild, Toomas
  • Torroni, Antonio
  • Villems, Richard
subjects:
  • Addendum
  • Animals
  • Article
  • Base Sequence
  • Biological and medical sciences
  • Biological Evolution
  • Cores
  • Databases, Genetic
  • DNA sequencing
  • DNA, Mitochondrial - classification
  • DNA, Mitochondrial - genetics
  • Educational aspects
  • Evolution
  • Evolutionary biology
  • Forensic science
  • Fundamental and applied biological sciences. Psychology
  • General aspects. Genetic counseling
  • Genetic research
  • Genetic Variation
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genetics(clinical)
  • Genomics
  • Haplotypes
  • Hominids
  • Homo neanderthalensis
  • Humans
  • Medical genetics
  • Medical sciences
  • Mitochondrial DNA
  • Molecular and cellular biology
  • Molecular genetics
  • Molecular Sequence Data
  • Mutation
  • Neanderthals
  • Neanderthals - genetics
  • Nucleotide sequencing
  • Perception
  • Phylogenetics
  • Phylogeny
  • Population genetics
  • Roots
ispartof: American journal of human genetics, 2012-04-06, Vol.90 (4), p.675-684
description: 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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleA “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
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creatorBehar, Doron M ; van Oven, Mannis ; Rosset, Saharon ; Metspalu, Mait ; Loogväli, Eva-Liis ; Silva, Nuno M ; Kivisild, Toomas ; Torroni, Antonio ; Villems, Richard
creatorcontribBehar, Doron M ; van Oven, Mannis ; Rosset, Saharon ; Metspalu, Mait ; Loogväli, Eva-Liis ; Silva, Nuno M ; Kivisild, Toomas ; Torroni, Antonio ; Villems, Richard
descriptionMutational 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.
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subjectAddendum ; Animals ; Article ; Base Sequence ; Biological and medical sciences ; Biological Evolution ; Cores ; Databases, Genetic ; DNA sequencing ; DNA, Mitochondrial - classification ; DNA, Mitochondrial - genetics ; Educational aspects ; Evolution ; Evolutionary biology ; Forensic science ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetic research ; Genetic Variation ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics(clinical) ; Genomics ; Haplotypes ; Hominids ; Homo neanderthalensis ; Humans ; Medical genetics ; Medical sciences ; Mitochondrial DNA ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutation ; Neanderthals ; Neanderthals - genetics ; Nucleotide sequencing ; Perception ; Phylogenetics ; Phylogeny ; Population genetics ; Roots
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descriptionMutational 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.
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25Homo neanderthalensis
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27Medical genetics
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29Mitochondrial DNA
30Molecular and cellular biology
31Molecular genetics
32Molecular Sequence Data
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34Neanderthals
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37Perception
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titleA “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
authorBehar, Doron M ; van Oven, Mannis ; Rosset, Saharon ; Metspalu, Mait ; Loogväli, Eva-Liis ; Silva, Nuno M ; Kivisild, Toomas ; Torroni, Antonio ; Villems, Richard
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abstractMutational 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.
copCambridge, MA
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pmid22482806
doi10.1016/j.ajhg.2012.03.002
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