Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe.

Abstract:

: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.

journal_name

Am J Phys Anthropol

authors

Francalacci P,Bertranpetit J,Calafell F,Underhill PA

doi

10.1002/(SICI)1096-8644(199608)100:4<443::AID-AJPA

subject

Has Abstract

pub_date

1996-08-01 00:00:00

pages

443-60

issue

4

eissn

0002-9483

issn

1096-8644

pii

10.1002/(SICI)1096-8644(199608)100:4<443::AID-AJPA

journal_volume

100

pub_type

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