Quintana-Murci Lluís, Veitia Reiner, Fellous Marc, Semino Ornella, Poloni Estella S
CNRS URA 1961, Institut Pasteur, Paris 75015, France.
Am J Phys Anthropol. 2003 Jun;121(2):157-71. doi: 10.1002/ajpa.10187.
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.
利用6个Y染色体特异性多态性位点（YAP、DYS19、DYS389 - I、DYS390、DYS391和DYS392）的等位基因变异，在代表地中海周边地区12个群体样本的333名男性中生成男性特异性单倍型。观察到个体间存在极大差异，因为超过160种不同的Y染色体变异可被定义为六位点单倍型。伴随着这种高变异性，观察到群体遗传结构水平较低。特别是，发现地中海盆地北部和东部直接面对的群体核心，从中东到意大利半岛，在基因上没有分化。对同一群体中Y特异性二元多态性的重新分析支持了这一观察结果，表明这些群体中至少部分男性特异性基因库要么有非常近的共同起源（这可能与新石器时代人口扩散假说有关），和/或基因流在塑造该地区遗传变异模式中发挥了重要作用。与这两个假说一致，我们发现DYS392等位基因的空间分布揭示了地中海地区东部和西部之间的显著分化。通过对微卫星变异的分析，估计了YAP(+)亚系4最近共同祖先的时间（TMRCA）。基于两个不同数据集的估计结果显示时间相当近（7000 - 11000年前），这表明该谱系可能是通过新石器时代从中东的迁移首次引入南欧的。
