The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs
Open accessAbstract
Variation in the human mitochondrial genome (mtDNA) is now routinely described and used to infer the histories of peoples, by means of one of two procedures, namely, the assaying of RFLPs throughout the genome and the sequencing of parts of the control region (CR). Using 95 samples from the Near East and northwest Caucasus, we present an analysis based on both systems, demonstrate their concordance, and, using additional available information, present the most refined phylogeny to date of west Eurasian mtDNA. We describe and apply a nomenclature for mtDNA clusters. Hypervariable nucleotides are identified, and the relative mutation rates of the two systems are evaluated. We point out where ambiguities remain. The identification of signature mutations for each cluster leads us to apply a hierarchical scheme for determining the cluster composition of a sample of Berber speakers, previously analyzed only for CR variation. We show that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, from which it diverged approximately 50,000 years ago.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The remaining individual belonged to haplogroup T, which likely represents recent European admixture.
“the remaining individual belonged to haplogroup T, which likely represents recent European admixture (Macaulay et al. 1999).”
From Melanesian and Asian origins of Polynesians: MtDNA and Y chromosome gradients across the Pacific (2006) · cites this paper as Macaulay et al. 1999
Cited by
Sorted by citations
Genetic Evidence for Near-Eastern Origins of European Cattle
Troy, C. S., MacHugh, D. E., Bailey, J. F., Magee, D. A., Loftus, R. T., Cunningham, P., Chamberlain, A. T., Sykes, B. C., & Bradley, D. G. (2001) · Nature · doi:10.1038/35074088 · Cited by 627 · see citing works
Self-citationO'Keefe, J. H., & Cordain, L. (2004) · Mayo Clinic Proceedings · doi:10.4065/79.1.101 · Cited by 289 · see citing works
Melanesian and Asian origins of Polynesians: MtDNA and Y chromosome gradients across the Pacific
Kayser, M., Brauer, S., Cordaux, R., Casto, A., Lao, O., Zhivotovsky, L. A., Moyse-Faurie, C., Rutledge, R. B., Schiefenhoevel, W., Gil, D., et al. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl093 · Cited by 244 · see citing works
Dulik, M. C., Zhadanov, S. I., Osipova, L. P., Askapuli, A., Gau, L., Gokcumen, O., Rubinstein, S., & Schurr, T. G. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.014 · Cited by 161 · see citing works
Analysis of European mtDNAs for Recombination
Elson, J. L., Andrews, R. M., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (2001) · The American Journal of Human Genetics · doi:10.1086/316938 · Cited by 142 · see citing works
Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis
Rego‐Pérez, I., Fernández‐Moreno, M., Fernández‐López, C., Arenas, J., & Blanco, F. J. (2008) · Arthritis & Rheumatism · doi:10.1002/art.23659 · Cited by 109 · see citing works
Complete mitochondrial DNA diversity in Iranians
Derenko, M., Malyarchuk, B., Bahmanimehr, A., Denisova, G., Perkova, M., Farjadian, S., & Yepiskoposyan, L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0080673 · Cited by 96 · see citing works
mtDNA haplogroups and osteoarthritis in different geographic populations
Soto-Hermida, A., Fernández-Moreno, M., Oreiro, N., Fernández-López, C., Rego-Pérez, I., & Blanco, F. J. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.03.001 · Cited by 51 · see citing works
- Authors
- Macaulay, V., Richards, M., Hickey, E., Vega, E., Cruciani, F., Guida, V., Scozzari, R., Bonné-Tamir, B., Sykes, B., & Torroni, A.
- Affiliations
- University of Oxford (GB)
- Sapienza University of Rome (IT)
- University of Urbino (IT)
- Corresponding author
- Macaulay, Vincent
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1999-01
- Volume
- 64
- Issue
- 1
- Pages
- 232-249
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1377722
- OpenAlex
- W2104591129
- Cited by
- 602
- References
- 0
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 1 · 2021: 4 · 2020: 7 · 2019: 6 · 2018: 7 · 2017: 4 · 2016: 11 · 2015: 12 · 2014: 17 · 2013: 14 · 2012: 22
- FWCI
- 18.96
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- University of Huddersfield Repository (University of Huddersfield) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Funders
- Wellcome Trust
- 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
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Keywords
- human mitochondrial DNA, mtDNA phylogeny, restriction fragment length polymorphism, Near East, North-Western Caucasus, mutation rate, population divergence
- MeSH terms
- Africa, Northern, Asia, DNA, Mitochondrial, Europe, Haplotypes, Humans, Models, Genetic, Phylogeny, Polymorphism, Restriction Fragment Length, Evolution, Molecular
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.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
