The emerging tree of west Eurasian mtDNAs: A synthesis of control-region sequences and RFLPs

Vincent Macaulay*, Martin Richards, Eileen Hickey, Emilce Vega, Fulvio Cruciani, Valentina Guida, Rosaria Scozzari, Batsheva Bonné-Tamir, Bryan Sykes, Antonio Torroni

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)232-249
Number of pages18
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 1999


FundersFunder number
Italian Consiglio Nazionale Della Ricerca98.00524, 97.04297
Wellcome Trust


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