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不断提高的系统发育分辨率对于西欧人群的Y染色体研究仍然具有参考价值。

Increasing phylogenetic resolution still informative for Y chromosomal studies on West-European populations.

作者信息

Larmuseau M H D, Vanderheyden N, Van Geystelen A, van Oven M, Kayser M, Decorte R

机构信息

UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium; KU Leuven, Forensic Medicine, Department of Imaging & Pathology, Leuven, Belgium; KU Leuven, Laboratory of Biodiversity and Evolutionary Genomics, Department of Biology, Leuven, Belgium.

UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.

出版信息

Forensic Sci Int Genet. 2014 Mar;9:179-85. doi: 10.1016/j.fsigen.2013.04.002. Epub 2013 May 14.

Abstract

Many Y-chromosomal lineages which are defined in the latest phylogenetic tree of the human Y chromosome by the Y Chromosome Consortium (YCC) in 2008 are distributed in (Western) Europe due to the fact that a large number of phylogeographic studies focus on this area. Therefore, the question arises whether newly discovered polymorphisms on the Y chromosome will still be interesting to study Western Europeans on a population genetic level. To address this question, the West-European region of Flanders (Belgium) was selected as study area since more than 1000 Y chromosomes from this area have previously been genotyped at the highest resolution of the 2008 YCC-tree and coupled to in-depth genealogical data. Based on these data the temporal changes of the population genetic pattern over the last centuries within Flanders were studied and the effects of several past gene flow events were identified. In the present study a set of recently reported novel Y-SNPs were genotyped to further characterize all those Flemish Y chromosomes that belong to haplogroups G, R-M269 and T. Based on this extended Y-SNP set the discrimination power increased drastically as previous large (sub-)haplogroups are now subdivided in several non-marginal groups. Next, the previously observed population structure within Flanders appeared to be the result of different gradients of independent sub-haplogroups. Moreover, for the first time within Flanders a significant East-West gradient was observed in the frequency of two R-M269 lineages, and this gradient is still present when considering the current residence of the DNA donors. Our results thus suggest that an update of the Y-chromosomal tree based on new polymorphisms is still useful to increase the discrimination power based on Y-SNPs and to study population genetic patterns in more detail, even in an already well-studied region such as Western Europe.

摘要

2008年,Y染色体联盟(YCC)在人类Y染色体的最新系统发育树中定义了许多Y染色体谱系,由于大量系统地理学研究聚焦于(西)欧地区,这些谱系分布于此。因此,一个问题随之而来:从群体遗传学角度研究西欧人时,Y染色体上新发现的多态性是否仍值得研究。为解决这个问题,比利时弗拉芒地区的西欧部分被选为研究区域,因为此前该地区已有1000多条Y染色体按照2008年YCC树的最高分辨率进行了基因分型,并与深入的系谱数据相关联。基于这些数据,研究了弗拉芒地区过去几个世纪群体遗传模式的时间变化,并确定了过去几次基因流动事件的影响。在本研究中,对一组最近报道的新型Y-SNP进行了基因分型,以进一步表征所有属于单倍群G、R-M269和T的弗拉芒Y染色体。基于这个扩展的Y-SNP集,鉴别能力大幅提高,因为之前的大(亚)单倍群现在被细分为几个非边缘群体。接下来,之前在弗拉芒地区观察到的群体结构似乎是独立亚单倍群不同梯度的结果。此外,在弗拉芒地区首次观察到两个R-M269谱系的频率存在显著的东西梯度,并且在考虑DNA供体的当前居住地时,这个梯度仍然存在。因此,我们的结果表明,基于新的多态性更新Y染色体树,对于提高基于Y-SNP的鉴别能力以及更详细地研究群体遗传模式仍然是有用的,即使在像西欧这样已经研究得很充分的地区也是如此。

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