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PMID: 9915963 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs.

American journal of human genetics ·Vol. 64 ·No. 1 ·1999-01-00 ·Pages 232-49

Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonné-Tamir B, Sykes B, Torroni A

Abstract

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.

MeSH Terms
Africa, Northern Asia DNA, Mitochondrial/genetics Europe Evolution, Molecular Haplotypes Humans Models, Genetic Phylogeny Polymorphism, Restriction Fragment Length
Chemicals
DNA, Mitochondrial
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Macaulay V
Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom. vincent.macaulay@cellsci.ox.ac.uk
Richards M
Hickey E
Vega E
Cruciani F
Guida V
Scozzari R
Bonné-Tamir B
Sykes B
Torroni A
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302204
Email
vincent.macaulay@cellsci.ox.ac.uk
Published
1999-01-00
Pages
232-49
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377722
Subset
IM
Grants
Wellcome Trust · United Kingdom
Databases
GENBANK
AF258352, AF258353, AF258354, AF258355, AF258356, AF258357, AF258358, AF258359, AF258360, AF258361, AF258362, AF258363, AF258364, AF258365, AF258366, AF258367, AF258368, AF258369, AF258370, AF258371, AF258372, AF258373, AF258374, AF258375, AF258376, AF258377, AF258378, AF258379, AF258380, AF258381
External Links
PubMed source DOI: 10.1086/302204 PMC Full Text View journal details
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