利用GCAT队列推断西班牙过去的人口统计学和基因适应性。

Inferring past demography and genetic adaptation in Spain using the GCAT cohort.

作者信息

Garcia-Calleja Jorge, Biagini Simone A, de Cid Rafael, Calafell Francesc, Bosch Elena

机构信息

Institute of Evolutionary Biology (UPF-CSIC), Department of Medicine and Life Sciences, Universitat Pompeu Fabra, 08003, Barcelona, Spain.

Department of Archaeology and Museology, Masaryk University, Brno, Czech Republic.

出版信息

Sci Rep. 2025 Apr 24;15(1):14225. doi: 10.1038/s41598-025-98272-w.

Abstract

Located in the southwestern corner of Europe, the Iberian Peninsula is separated from the rest of the continent by the Pyrenees Mountains and from Africa by the Strait of Gibraltar. This geographical position may have conditioned distinct selective pressures compared to the rest of Europe and influenced differential patterns of gene flow. In this work, we analyse 704 whole-genome sequences from the GCAT reference panel to quantify gene flow into Spain from various historical sources and identify the top signatures of positive (adaptive) selection. While we found no clear evidence of a 16th-century admixture event putatively related to the French diaspora during the Wars of Religion, we detected signals of North African admixture matching the Muslim period and the subsequent Christian Reconquista. Notably, besides finding that well-known candidate genes previously described in Eurasians also seem to be adaptive in Spain, we discovered novel top candidates for positive selection putatively associated with immunity and diet (UBL7, SMYD1, VAC14 and FDFT1). Finally, local ancestry deviation analysis revealed that the MHCIII genomic region underwent post-admixture selection following the post-Neolithic admixture with Steppe ancestry.

摘要

伊比利亚半岛位于欧洲的西南角,与欧洲大陆的其他部分被比利牛斯山脉隔开,与非洲被直布罗陀海峡隔开。与欧洲其他地区相比,这一地理位置可能产生了不同的选择压力,并影响了基因流动的差异模式。在这项工作中,我们分析了来自GCAT参考面板的704个全基因组序列,以量化从各种历史来源流入西班牙的基因流动,并确定正向(适应性)选择的顶级特征。虽然我们没有发现明确证据表明16世纪存在一个假定与宗教战争期间法国侨民有关的混合事件,但我们检测到了与穆斯林时期及随后的基督教收复失地运动相匹配的北非混合信号。值得注意的是,除了发现先前在欧亚人中描述的知名候选基因在西班牙似乎也具有适应性外,我们还发现了假定与免疫和饮食相关的新的正向选择顶级候选基因(UBL7、SMYD1、VAC14和FDFT1)。最后,局部祖先偏差分析表明,在新石器时代之后与草原血统混合后,MHCIII基因组区域经历了混合后选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/125f/12022144/c7130560b32a/41598_2025_98272_Fig1_HTML.jpg

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