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

Variation in the human mitochondrial genome (mtDNA) is now routinely descri bed and used to infer the histories of peoples, by means of one of two proc edures, namely, the assaying of RFLPs throughout the genome and the sequenc ing of parts of the control region (CR). Using 95 samples from the Near Eas t and northwest Caucasus, we present an analysis based on both systems, dem onstrate their concordance, and, using additional available information, pr esent the most refined phylogeny to date of west Eurasian mtDNA. We describ e and apply a nomenclature for mtDNA clusters. Hypervariable nucleotides ar e identified, and the relative mutation rates of the two systems are evalua ted. We point out where ambiguities remain, The identification of signature mutations for each cluster leads us to apply a hierarchical scheme for det ermining the cluster composition of a sample of Berber speakers, previously analyzed only for CR variation. We show that the main indigenous North Afr ican cluster is a sister group to the most ancient cluster of European mtDN As, hom which it diverged similar to 50,000 years ago.