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古代基因组揭示了草原相关血统抵达意大利半岛后结构的转变。

Ancient genomes reveal structural shifts after the arrival of Steppe-related ancestry in the Italian Peninsula.

机构信息

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23B, Tartu 51010, Estonia.

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23B, Tartu 51010, Estonia; Department of Biology-Genetics, University of Bari, Via E. Orabona, 4, Bari 70124, Italy.

出版信息

Curr Biol. 2021 Jun 21;31(12):2576-2591.e12. doi: 10.1016/j.cub.2021.04.022. Epub 2021 May 10.

DOI:10.1016/j.cub.2021.04.022
PMID:33974848
Abstract

Across Europe, the genetics of the Chalcolithic/Bronze Age transition is increasingly characterized in terms of an influx of Steppe-related ancestry. The effect of this major shift on the genetic structure of populations in the Italian Peninsula remains underexplored. Here, genome-wide shotgun data for 22 individuals from commingled cave and single burials in Northeastern and Central Italy dated between 3200 and 1500 BCE provide the first genomic characterization of Bronze Age individuals (n = 8; 0.001-1.2× coverage) from the central Italian Peninsula, filling a gap in the literature between 1950 and 1500 BCE. Our study confirms a diversity of ancestry components during the Chalcolithic and the arrival of Steppe-related ancestry in the central Italian Peninsula as early as 1600 BCE, with this ancestry component increasing through time. We detect close patrilineal kinship in the burial patterns of Chalcolithic commingled cave burials and a shift away from this in the Bronze Age (2200-900 BCE) along with lowered runs of homozygosity, which may reflect larger changes in population structure. Finally, we find no evidence that the arrival of Steppe-related ancestry in Central Italy directly led to changes in frequency of 115 phenotypes present in the dataset, rather that the post-Roman Imperial period had a stronger influence, particularly on the frequency of variants associated with protection against Hansen's disease (leprosy). Our study provides a closer look at local dynamics of demography and phenotypic shifts as they occurred as part of a broader phenomenon of widespread admixture during the Chalcolithic/Bronze Age transition.

摘要

在欧洲,越来越多的研究表明,青铜时代的遗传特征与来自草原地区的基因流入有关。这种重大转变对意大利半岛人口遗传结构的影响仍未得到充分探索。本研究通过对来自意大利东北部和中部的 22 个洞穴和单人墓葬(公元前 3200 年至公元前 1500 年)的全基因组鸟枪法数据进行分析,对来自意大利中部的青铜时代个体(n=8;覆盖度为 0.001-1.2×)进行了首次基因组特征分析,填补了公元前 1950 年至公元前 1500 年之间文献中的空白。本研究证实,在青铜时代和公元前 1600 年左右,草原地区相关基因流入意大利中部,出现了多种遗传背景,并且这种遗传背景随着时间的推移而增加。我们在青铜时代的洞穴混葬中发现了埋葬模式存在近亲关系,而在公元前 2200 年至公元前 900 年的青铜时代,这种关系逐渐消失,同时杂合度降低,这可能反映了人口结构的较大变化。最后,我们没有发现草原地区相关基因流入意大利中部直接导致数据集中 115 种表型频率发生变化的证据,而是后罗马帝国时期的影响更大,尤其是与抗汉森病(麻风病)相关的变体频率。本研究深入探讨了人口统计学和表型变化的局部动态,这些变化是青铜时代/铁器时代过渡期间广泛混合这一更广泛现象的一部分。

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