揭示阿尔卑斯山瓦尔泽迁徙的遗传特征:多样性和分化模式。

Peter Resutik, Joëlle Schneider, Simon Aeschbacher, Magnus Dehli Vigeland, Mario Gysi, Corinne Moser, Chiara Barbieri, Paul Widmer, Mathias Currat, Adelgunde Kratzer, Michael Krützen, Cordula Haas, Natasha Arora
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引用次数: 0

摘要

自从离开非洲以来,人类经历了一系列的范围扩张。虽然这些扩张的基因组特征在大陆范围内可以很好地检测到,但在较短时间跨度内小规模扩张的基因组后果更难以解开。中世纪瓦尔泽人从瑞士南部(上瓦莱州)的家乡迁移到阿尔卑斯山脉的其他地区,这是人类相对较近的地理和人口扩张的一个很好的例子。虽然从20世纪80年代开始的几项研究,基于同工酶标记,评估了个体瓦尔瑟群落的隔离和近交水平,但它们大多是一次只关注一个群落。在这里,我们提供了遗传多样性和分化的综合概述,基于多个沃尔瑟人,沃尔瑟人家园,和非沃尔瑟高山群落的样本,以及一个理想的(模拟的)瑞士参考群体(Ref-Pop)。为了探索Walser迁徙在其后代基因组中的遗传信号,我们使用了一组法医常染色体str以及单亲标记。基于常染色体str的成对FST估计显示,与非Walser高山群落和理想的Ref-Pop相比,Walser-homeland和Walser群落表现出低至中等的遗传分化。地理上更偏远、可能更孤立的Lötschental Walser-homeland群落和Vals和Gressoney的Walser群落在遗传上比其他群落表现出更强的分化。对线粒体DNA的分析显示,在瓦尔泽人群落中存在W6单倍群,这是中欧罕见的单倍群。我们的研究有助于了解瓦尔瑟人故土和瓦尔瑟人的遗传多样性,但也强调了利用全基因组数据对欧洲阿尔卑斯人群遗传结构和进化史进行更全面研究的必要性。
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Uncovering genetic signatures of the Walser migration in the Alps: Patterns of diversity and differentiation.

Since leaving Africa, human populations have gone through a series of range expansions. While the genomic signatures of these expansions are well detectable on a continental scale, the genomic consequences of small-scale expansions over shorter time spans are more challenging to disentangle. The medieval migration of the Walser people from their homeland in ssouthern Switzerland (Upper Valais) into other regions of the Alps is a good example of such a comparatively recent geographic and demographic expansion in humans. While several studies from the 1980s, based on allozyme markers, assessed levels of isolation and inbreeding in individual Walser communities, they mostly did so by focusing on a single community at a time. Here, we provide a comprehensive overview of genetic diversity and differentiation based on samples from multiple Walser, Walser-homeland, and non-Walser Alpine communities, along with an idealized (simulated) Swiss reference population (Ref-Pop). To explore genetic signals of the Walser migration in the genomes of their descendants, we use a set of forensic autosomal STRs as well as uniparental markers. Estimates of pairwise FST based on autosomal STRs reveal that the Walser-homeland and Walser communities show low to moderate genetic differentiation from the non-Walser Alpine communities and the idealized Ref-Pop. The geographically more remote and likely more isolated Walser-homeland community of Lötschental and the Walser communities of Vals and Gressoney appear genetically more strongly differentiated than other communities. Analyses of mitochondrial DNA revealed the presence of haplogroup W6 among the Walser communities, a haplogroup that is otherwise rare in central Europe. Our study contributes to the understanding of genetic diversity in the Walser-homeland and Walser people, but also highlights the need for a more comprehensive study of the population genetic structure and evolutionary history of European Alpine populations using genome-wide data.

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