A signal, from human mtDNA, of postglacial recolonization in Europe

Citation
A. Torroni et al., A signal, from human mtDNA, of postglacial recolonization in Europe, AM J HU GEN, 69(4), 2001, pp. 844-852
Citations number
36
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
69
Issue
4
Year of publication
2001
Pages
844 - 852
Database
ISI
SICI code
0002-9297(200110)69:4<844:ASFHMO>2.0.ZU;2-E
Abstract
Mitochondrial HVS-I sequences from 10,365 subjects belonging to 56 populati ons/geographical regions of western Eurasia and northern Africa were first surveyed for the presence of the T -->C transition at nucleotide position 1 6298, a mutation which has previously been shown to characterize haplogroup V mtDNAs. All mtDNAs with this mutation were then screened for a number of diagnostic RFLP sites, revealing two major subsets of mtDNAs. One is haplo group V proper, and the other has been termed "pre* V," since it predates V phylogenetically. The rather uncommon pre* V tends to be scattered through out Europe (and northwestern Africa), whereas V attains two peaks of freque ncy: one situated in southwestern Europe and one in the Saami of northern S candinavia. Geographical distributions and ages support the scenario that p re* V originated in Europe before the Last Glacial Maximum (LGM), whereas t he more recently derived haplogroup V arose in a southwestern European refu gium soon after the LGM. The arrival of V in eastern/central Europe, howeve r, occurred much later, possibly with (post-) Neolithic contacts. The distr ibution of haplogroup V mtDNAs in modern European populations would thus, a t least in part, reflect the pattern of postglacial human recolonization fr om that refugium, affecting even the Saami. Overall, the present study show s that the dissection of mtDNA variation into small and well-defined evolut ionary units is an essential step in the identification of spatial frequenc y patterns. Mass screening of a few markers identified using complete mtDNA sequences promises to be an efficient strategy for inferring features of h uman prehistory.