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检测对流行的古老品种吉尔真塔纳山羊基因组的选择印记。

Detecting the footprint of selection on the genome of Girgentana goat, a popular ancient breed.

作者信息

Criscione A, Ben Jemaa S, Chessari G, Riggio S, Tumino S, Cammilleri G, Lastra A, Carta F, Sardina M T, Portolano B, Bordonaro S, Cesarani A, Mastrangelo S

机构信息

Dipartimento di Agricoltura, Alimentazione e Ambiente, University of Catania, 95123 Catania, Italy.

Laboratoire des Productions Animales et Fourragères, Institut National de la Recherche Agronomique de Tunisie, Université de Carthage, 2049 Ariana, Tunisia.

出版信息

Animal. 2025 Apr;19(4):101466. doi: 10.1016/j.animal.2025.101466. Epub 2025 Feb 17.

Abstract

Girgentana goats are an ancient breed with distinctive morphological, adaptive, and production traits, making this population an interesting model for studying the genetic architecture underlying these traits. These special features result from natural and human-mediated selection. In this study, we aimed to detect potential signatures of selection in the Girgentana genome by combining the following statistical methods: the integrated haplotype score (iHS), the standardised log-ratio of the integrated site-specific extended haplotype homozygosity test between pairs of populations (Rsb), the runs of homozygosity (ROH) islands and the population differentiation index (F). A composite dataset of 206 Girgentana and 334 animals from 13 goat populations across Northern and Southern Italy was analysed. All animals were genotyped using an Illumina Goat medium-density BeadChip. Multidimensional scaling and neighbour-joining analyses revealed a clear separation of the three major clades, coinciding with Girgentana, Northern, and Southern Italian goats. Twelve regions putatively under selection were detected using iHS and Rsb, whereas 16 hotspot regions were identified using F and ROH. Notably, a candidate region on chromosome 01 was consistently identified in all four tests. This region, along with other candidate regions, includes several genes associated with adaptive immunity, reproduction, and body size traits. The Girgentana breed showed signals of ongoing selection in a region of chromosome 6 encompassing several milk quality genes, such as caseins (CSN2, CSN1S2, and CSN3). Our study provides a glimpse into the genomic regions harbouring genes that presumably affect the desired features of Girgentana. This highlights the importance of ancient breeds in providing essential genetic traits for adapting livestock to increasing climate change challenges.

摘要

吉尔真塔纳山羊是一个古老的品种,具有独特的形态、适应能力和生产特性,这使得该群体成为研究这些特性背后遗传结构的一个有趣模型。这些特殊特征是自然选择和人为介导选择的结果。在本研究中,我们旨在通过结合以下统计方法来检测吉尔真塔纳基因组中潜在的选择信号:综合单倍型评分(iHS)、群体对之间综合位点特异性扩展单倍型纯合性测试的标准化对数比率(Rsb)、纯合性片段(ROH)岛以及群体分化指数(F)。分析了来自意大利北部和南部13个山羊群体的206只吉尔真塔纳山羊和334只其他山羊的综合数据集。所有动物都使用Illumina山羊中密度基因芯片进行基因分型。多维尺度分析和邻接法分析显示出三个主要分支的明显分离,分别与吉尔真塔纳山羊、意大利北部山羊和意大利南部山羊相对应。使用iHS和Rsb检测到12个可能受到选择的区域,而使用F和ROH鉴定出16个热点区域。值得注意的是,在所有四项测试中都一致鉴定出1号染色体上的一个候选区域。该区域以及其他候选区域包含几个与适应性免疫、繁殖和体型特征相关的基因。吉尔真塔纳品种在6号染色体的一个区域显示出正在进行选择的信号,该区域包含几个与牛奶品质相关的基因,如酪蛋白(CSN2、CSN1S2和CSN3)。我们的研究让我们得以一窥含有可能影响吉尔真塔纳山羊所需特征的基因的基因组区域。这凸显了古老品种在为家畜适应日益严峻的气候变化挑战提供重要遗传特性方面的重要性。

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