SEQUENCE DIVERSITY OF THE CONTROL REGION OF MITOCHONDRIAL-DNA IN TUSCANY AND ITS IMPLICATIONS FOR THE PEOPLING OF EUROPE

The control region of mitochondrial DNA has been widely studied in var ious human populations. This paper reports sequence data for hypervari able segments 1 and 2 of the control region from a population from sou thern Tuscany (Italy). The results confirm the high variability of the control region, with 43 different haplotypes in 49 individuals sample d. The comparison of this set of data with other European populations allows the reconstruction of the population history of Tuscany. Indepe ndent approaches, such as the estimation of haplotype diversity, mean pairwise differences, genetic distances and discriminant analysis, pla ce the Tuscan sample in an intermediate position between sequences fro m culturally or geographically isolated regions of Europe (Sardinia, t he Basque Country, Britain) and those from the Middle East. In spite o f the remarkable genetic homogeneity in Europe, a degree of variabilit y is shown by local European populations and homogeneity increases wit h the relative isolation of the population. The pattern of mitochondri al variation in Tuscany indicates the persistence of an ancient Europe an component subsequently enriched by migrational waves, possibly from the Middle East. (C) 1998 Wiley-Liss, Inc.