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Genetic structure of Mediterranean populations revealed by Y‐chromosome haplotype analysis
Author(s) -
QuintanaMurci Lluís,
Veitia Reiner,
Fellous Marc,
Semino Ornella,
Poloni Estella S.
Publication year - 2003
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/ajpa.10187
Subject(s) - haplotype , biology , locus (genetics) , gene flow , evolutionary biology , population , genetics , genetic variation , y chromosome , allele , microsatellite , mediterranean basin , genetic variability , population genetics , genetic structure , mediterranean climate , gene , genotype , ecology , demography , sociology
The allelic variability at six Y‐chromosome‐specific polymorphisms (YAP, DYS19, DYS389‐I, DYS390, DYS391, and DYS392) was used to generate male‐specific haplotypes in 333 males representing 12 population samples from the region around the Mediterranean sea. Extreme interindividual variation was observed, as more than 160 distinct Y‐chromosome variants could be defined as six‐locus haplotypes. Concomitant with this high variability, low levels of population genetic structure were observed. In particular, a “core” of populations directly facing the north and the east of the Mediterranean basin, from the Middle East to the Italian Peninsula, was found to be genetically undifferentiated. This observation, supported by a reanalysis of Y‐specific binary polymorphisms in the same populations, suggests that at least part of the male‐specific gene pools of these populations has either a very recent common origin (that could be related with the Neolithic demic diffusion hypothesis), and/or that gene flow has played a significant role in shaping the patterns of genetic variability in this region. In agreement with both hypotheses, we found that the spatial distribution of DYS392 alleles revealed a marked differentiation between the East and the West of the Mediterranean area. Through the analysis of microsatellite variation, the time to the most recent common ancestor (TMRCA) of the YAP + sublineage 4 has been estimated. The estimations, based on two different data sets, turn out to be quite recent (7,000–11,000 YBP), suggesting that this lineage may have been first introduced into Southern Europe through Neolithic migrations from the Middle East. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.