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Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis

Quintana-Murci, Lluís
Veitia, Reiner
Fellous, Marc
Semino, Ornella
Published in American Journal of Physical Anthropology. 2003, vol. 121, no. 2, p. 157-171
Abstract 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.
Keywords Human ChromosomesEmigration and ImmigrationMolecular EpidemiologyEuropean Continental Ancestry Group/geneticsGenetic Variation/geneticsPopulation/methods GeneticsHaplotypes/geneticsHumansMaleMediterranean RegionMicrosatellite Repeats/geneticsPedigree
PMID: 12740959
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Research group Unité d'anthropologie
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QUINTANA-MURCI, Lluís et al. Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis. In: American Journal of Physical Anthropology, 2003, vol. 121, n° 2, p. 157-171. https://archive-ouverte.unige.ch/unige:2130

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Deposited on : 2009-06-22

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