ArticleAmerican journal of human genetics2012
A "Copernican" reassessment of the human mitochondrial DNA tree from its root.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 272 papers.
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Who cites it
272 citing papers in PubMed.
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- Cosmopolitanism in the depths of Barbaricum evidenced by archaeogenomic data from the Late Iron Age Goth community of the Masłomęcz group.Genome biology · 2026Article
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- Maternal lineage diversity and health-related haplogroups in the Gilgiti and Kohistani populations of northern Pakistan.BMC genomics · 2025Article
- Genomic evidence supports the "long chronology" for the peopling of Sahul.Science advances · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
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- Ancient mitogenomes from Neolithic, megalithic and medieval burials suggest complex genetic history of Kashmir valley, India.Scientific reports · 2025Article
- Introducing the Y-chromosomal Ancestral-like Reference Sequence-Improving the Capture of Human Evolutionary Information.Molecular biology and evolution · 2025Article
212 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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