Di Giacomo F, Luca F, Popa L O, Akar N, Anagnou N, Banyko J, Brdicka R, Barbujani G, Papola F, Ciavarella G, Cucci F, Di Stasi L, Gavrila L, Kerimova M G, Kovatchev D, Kozlov A I, Loutradis A, Mandarino V, Mammi' C, Michalodimitrakis E N, Paoli G, Pappa K I, Pedicini G, Terrenato L, Tofanelli S, Malaspina P, Novelletto A
Department of Biology, University Tor Vergata, Rome, Italy.
Hum Genet. 2004 Oct;115(5):357-71. doi: 10.1007/s00439-004-1168-9. Epub 2004 Aug 21.
In order to attain a finer reconstruction of the peopling of southern and central-eastern Europe from the Levant, we determined the frequencies of eight lineages internal to the Y chromosomal haplogroup J, defined by biallelic markers, in 22 population samples obtained with a fine-grained sampling scheme. Our results partially resolve a major multifurcation of lineages within the haplogroup. Analyses of molecular variance show that the area covered by haplogroup J dispersal is characterized by a significant degree of molecular radiation for unique event polymorphisms within the haplogroup, with a higher incidence of the most derived sub-haplogroups on the northern Mediterranean coast, from Turkey westward; here, J diversity is not simply a subset of that present in the area in which this haplogroup first originated. Dating estimates, based on simple tandem repeat loci (STR) diversity within each lineage, confirmed the presence of a major population structuring at the time of spread of haplogroup J in Europe and a punctuation in the peopling of this continent in the post-Neolithic, compatible with the expansion of the Greek world. We also present here, for the first time, a novel method for comparative dating of lineages, free of assumptions of STR mutation rates.
为了更精细地重建从黎凡特地区到南欧和中东欧地区的人口迁徙情况，我们采用精细的采样方案，在22个群体样本中，确定了由双等位基因标记定义的Y染色体单倍群J内部8个谱系的频率。我们的研究结果部分解决了该单倍群内谱系的一个主要多分支问题。分子方差分析表明，单倍群J扩散所覆盖的区域，其特征是该单倍群内独特事件多态性具有显著程度的分子辐射，在地中海北岸从土耳其向西的地区，最衍生的亚单倍群发生率更高；在这里，J的多样性并非仅仅是该单倍群最初起源地区多样性的一个子集。基于每个谱系内简单串联重复序列（STR）多样性的年代估计，证实了在欧洲单倍群J扩散时期存在主要的种群结构，以及新石器时代之后该大陆人口迁徙中的一个断点，这与希腊世界的扩张相契合。我们在此还首次提出了一种新的谱系比较年代测定方法，该方法无需STR突变率的假设。
