en
Scientific article
English

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

Published inAmerican journal of physical anthropology, vol. 121, no. 2, p. 157-171
Publication date2003
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 Chromosomes
  • Emigration and Immigration
  • Molecular Epidemiology
  • European Continental Ancestry Group/genetics
  • Genetic Variation/genetics
  • Population/methods Genetics
  • Haplotypes/genetics
  • Humans
  • Male
  • Mediterranean Region
  • Microsatellite Repeats/genetics
  • Pedigree
Citation (ISO format)
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. doi: 10.1002/ajpa.10187
Main files (1)
Article (Accepted version)
accessLevelRestricted
Identifiers
ISSN of the journal0002-9483
698views
13downloads

Technical informations

Creation06/18/2009 3:10:00 PM
First validation06/18/2009 3:10:00 PM
Update time03/14/2023 3:09:13 PM
Status update03/14/2023 3:09:13 PM
Last indexation05/02/2024 11:11:47 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack