TY - JOUR
T1 - The emerging tree of west Eurasian mtDNAs
T2 - A synthesis of control-region sequences and RFLPs
AU - Macaulay, Vincent
AU - Richards, Martin
AU - Hickey, Eileen
AU - Vega, Emilce
AU - Cruciani, Fulvio
AU - Guida, Valentina
AU - Scozzari, Rosaria
AU - Bonné-Tamir, Batsheva
AU - Sykes, Bryan
AU - Torroni, Antonio
N1 - Funding Information:
We thank H.-J. Bandelt for critical advice; A. Cambon-Thomsen, K. K. Kidd, and J. R. Kidd for providing samples; S. Hofmann for discussion; and S. Shanker for her work at the University of Florida DNA Sequencing Core Laboratory. This research received support from The Wellcome Trust (to B.S.) and from the Italian Consiglio Nazionale Della Ricerca (grants 97.04297.CT04 and 98.00524.CT04) and the Ministero Dell'Università e Ricerca Scientifica e Tecnologica. M.R. was supported by a Wellcome Trust bioarchaeology fellowship.
PY - 1999
Y1 - 1999
N2 - 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 ~50,000 years ago.
AB - 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 ~50,000 years ago.
UR - http://www.scopus.com/inward/record.url?scp=0033363826&partnerID=8YFLogxK
U2 - 10.1086/302204
DO - 10.1086/302204
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AN - SCOPUS:0033363826
SN - 0002-9297
VL - 64
SP - 232
EP - 249
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -