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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
Open accessAbstract
Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical genetics, genetic genealogy, and forensic science. Many applications require detailed knowledge about the phylogenetic relationship of mtDNA variants. Although the phylogenetic resolution of global human mtDNA diversity has greatly improved as a result of increasing sequencing efforts of complete mtDNA genomes, an updated overall mtDNA tree is currently not available. In order to facilitate a better use of known mtDNA variation, we have constructed an updated comprehensive phylogeny of global human mtDNA variation, based on both coding- and control region mutations. This complete mtDNA tree includes previously published as well as newly identified haplogroups, is easily navigable, will be continuously and regularly updated in the future, and is online available at http://www.phylotree.org.
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“the most recent revision of mtDNA haplogroups [87] clearly show an increase in the frequency of haplogroup B from Papua New Guinea and nearby islands at 60-40%, to over 80% in Fiji, and +90% among Polynesians (Figure 2).”
From Dispersal, Isolation, and Interaction in the Islands of Polynesia: A Critical Review of Archaeological and Genetic Evidence (2017) · cites this paper as [87]
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“Across all 160 Native Hawaiians, we identified 14 mtSNPs to have a minor allele frequency >1% (Table 1), of which 6 polymorphisms have not been previously identified by PhyloTree [46] to be a haplogroup identifying marker.”
From Population Genetic Structure and Origins of Native Hawaiians in the Multiethnic Cohort Study (2012) · cites this paper as [46]
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“MtDNA haplogroup assignment was performed on positions with a read depth > 1 (coverage filtered) using HaploGrep 2.0 (Kloss‐Brandstatter et al., 2011), followed by manual confirmation of haplogroup‐defining mutations provided in Phylotree mtDNA tree Build 16 (van Oven and Kayser, 2009).”
From Successful enrichment and recovery of whole mitochondrial genomes from ancient human dental calculus (2016) · cites this paper as van Oven and Kayser, 2009
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“It belongs to haplogroup HV18 [48], a rare lineage (five samples in EMPOP v4/R12, https://empop.online/)[49,50] that has been defined for the first time by analyzing modern Iranians [51] and that is nowadays present in Western Europe and the Middle East.”
From Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives. (2019) · cites this paper as [48]
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“Both Gill et al. [7] and Ivanov et al. [13] evaluated the evidence in their investigations using a Bayesian approach to evaluate the weight of the evidence under two opposing hypotheses (likelihood ratio): (1) These are the remains of the Romanovs, and (2) these are not the remains of the Romanovs.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
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“Nagai et al. [22] erroneously reported that Ivanov et al. [13] had observed a transition at nucleotide position 320 (C-T).”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
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“Although two sets of skeletal remains belonging to Alexei and one of his sisters were missing from the mass grave, the forensic results were very conclusive in identifying the Romanov family and their servants.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
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“Ivanov et al. [13] gave clear and convincing evidence that the 16,169 heteroplasmy found in the tsar was in fact authentic, since Georgii had the same point heteroplasmy, although at a ratio different from that of the tsar.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
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“The initial work from 1993 to 1996 [7,13] was a watershed moment for DNA testing, and despite the feeble attempts to discredit these studies with contaminated data, the results have withstood the test of time throughout scientific advances.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [13]
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“The Anzick-1 D4h3a does not carry any of the polymorphisms that define the several sub-groups of the haplogroup13 and is thus placed at the root of D4h3a.”
From The genome of a Late Pleistocene human from a Clovis burial site in western Montana (2014) · cites this paper as [13]
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Massive migration from the steppe was a source for Indo-European languages in Europe
Haak, W., Lazaridis, I., Patterson, N., Rohland, N., Mallick, S., Llamas, B., Brandt, G., Nordenfelt, S., Harney, E., Stewardson, K., et al. (2015) · Nature · doi:10.1038/nature14317 · Cited by 1,940
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
Stewart, J. B., & Chinnery, P. F. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3966 · Cited by 1,041
Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans
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HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
Weißensteiner, H., Pacher, D., Kloss‐Brandstätter, A., Forer, L., Specht, G., Bandelt, H., Kronenberg, F., Salas, A., & Schönherr, S. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw233 · Cited by 946
Metadata
- Authors
- van Oven, M., & Kayser, M.
- Affiliations
- Erasmus MC (NL)
- ORCID
- Kayser, Manfred
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2009-02
- Volume
- 30
- Issue
- 2
- Pages
- E386-E394
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2111668248
- Cited by
- 1,810
- References
- 90
- Citations by year
- 2026: 46 · 2025: 74 · 2024: 66 · 2023: 86 · 2022: 131 · 2021: 113 · 2020: 99 · 2019: 120 · 2018: 123 · 2017: 130 · 2016: 115 · 2015: 129 · 2014: 129 · 2013: 135 · 2012: 103
- FWCI
- 39.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- human mitochondrial DNA, mtDNA phylogeny, mtDNA haplogroups
- MeSH terms
- DNA, Mitochondrial, Haplotypes, Humans, Phylogeny, Genetic Variation, Open Reading Frames, Locus Control Region
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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