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Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe
Author(s) -
Francalacci Paolo,
Bertranpetit Jaume,
Calafell Francesc,
Underhill Peter A.
Publication year - 1996
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/(sici)1096-8644(199608)100:4<443::aid-ajpa1>3.0.co;2-s
Subject(s) - mitochondrial dna , sequence (biology) , diversity (politics) , mtdna control region , evolutionary biology , geography , dna sequencing , genetics , biology , dna , genealogy , history , gene , sociology , genotype , anthropology , haplotype
The control region of mitochondrial DNA has been widely studied in various human populations. This paper reports sequence data for hypervariable segments 1 and 2 of the control region from a population from southern Tuscany (Italy). The results confirm the high variability of the control region, with 43 different haplotypes in 49 individuals sampled. The comparison of this set of data with other European populations allows the reconstruction of the population history of Tuscany. Independent approaches, such as the estimation of haplotype diversity, mean pairwise differences, genetic distances and discriminant analysis, place the Tuscan sample in an intermediate position between sequences from culturally or geographically isolated regions of Europe (Sardinia, the Basque Country, Britain) and those from the Middle East. In spite of the remarkable genetic homogeneity in Europe, a degree of variability is shown by local European populations and homogeneity increases with the relative isolation of the population. The pattern of mitochondrial variation in Tuscany indicates the persistence of an ancient European component subsequently enriched by migrational waves, possibly from the Middle East. © 1996 Wiley‐Liss, Inc.