本地牛和全球分布牛之间的基因组比较揭示了参与环境适应的结构变异。

The genomic comparison between autochthonous and cosmopolitan cows reveals structural variants involved in environmental adaptation.

作者信息

Strillacci Maria Giuseppina, Bernini Francesca, Vevey Mario, Blanket Veruska, Bagnato Alessandro

机构信息

Department of Veterinary Medicine and Animal Sciences, Università degli Studi di Milano, Lodi, 26900, Italy.

Associazione Nazionale Bovini di Razza Valdostana, Gressan, 11020, Italy.

出版信息

Sci Rep. 2025 Jul 1;15(1):22280. doi: 10.1038/s41598-025-07165-5.

Abstract

Copy Number Variants (CNVs) are structural variants affecting genetic diversity and phenotypic variability of populations. Different authors underlined the relevance of CNV in relation to the adaptation to environmental conditions (e.g., altitude, harsh farming environment). Aosta cattle (Aosta Red Pied - ARP; Aosta Black Pied/Chestnut - ABC and Mixed Chestnut-Héren - ACH) farmed in the Aosta Valley, and the Oropa Red Pied (ORO), farmed in the Piedmont region, are autochthonous dual-purpose breeds well adapted to the natural Alpine environment. In contrast, the Holstein (HOL) breed is a specialized dairy breed raised in intensive farming systems, representing an artificial environment. The aim of this study is to use CNVs to characterize these breeds and explore the relationship between structural genomic variability and adaptation to mountain farming systems (natural environment) vs. intensive farming systems (artificial environment). Using the GeneSeek Genomic Profiler Bovine 100K data, a total of 160,798 CNVs were identified across 5,610 individuals. Principal Component Analysis (PCA) using CNV Regions (CNVRs) revealed that Aosta breeds clustered into two separate groups, with one smaller cluster including part of ORO cows, while the Holstein formed a distinct cluster. These results suggest that CNVs may act as markers of adaptive selection, influencing both Aosta and ORO breeds, though to a different extent compared to the intensively farmed HOL breed. A total of 526 CNVRs were identified in at least 2% of the samples. Annotated genes and overlapping QTL were functionally associated with production, functional traits, and health-related characteristics. V analysis revealed candidate genes linked to environmental adaptation, reproduction, and metabolic efficiency in Aosta, ORO, and HOL cattle. Key findings include TCF12 and SRGAP1 deletions in Aosta, suggesting trade-offs between muscle growth and endurance, while ELF2 and ARID5B gains in Holstein indicate aptitude for milk protein synthesis and feed efficiency. Additionally, reproductive genes (RGS3, GSE1, MARCH10) showed distinct selection pressures between Dual-purpose and Holstein breeds, reflecting adaptation to different production systems.

摘要

拷贝数变异(CNV)是影响种群遗传多样性和表型变异性的结构变异。不同作者强调了CNV在适应环境条件(如海拔、恶劣养殖环境)方面的相关性。在奥斯塔山谷养殖的奥斯塔牛(奥斯塔红白花牛 - ARP;奥斯塔黑白花/栗色牛 - ABC和混种栗色 - 赫伦牛 - ACH),以及在皮埃蒙特地区养殖的奥罗帕红白花牛(ORO),都是非常适应阿尔卑斯自然环境的本土兼用型品种。相比之下,荷斯坦(HOL)品种是在集约化养殖系统中饲养的专门奶牛品种,代表了一种人工环境。本研究的目的是利用CNV对这些品种进行特征描述,并探索结构基因组变异性与适应山地养殖系统(自然环境)和集约化养殖系统(人工环境)之间的关系。利用GeneSeek基因组分析牛100K数据,在5610个个体中总共鉴定出160,798个CNV。使用拷贝数变异区域(CNVR)进行的主成分分析(PCA)显示,奥斯塔品种聚为两个独立的组,其中一个较小的组包括部分ORO奶牛,而荷斯坦形成了一个独特的组。这些结果表明,CNV可能作为适应性选择的标记,对奥斯塔和ORO品种都有影响,尽管与集约化养殖的HOL品种相比程度不同。在至少2%的样本中总共鉴定出526个CNVR。注释基因和重叠的数量性状位点在功能上与生产、功能性状和健康相关特征有关。V分析揭示了与奥斯塔、ORO和HOL牛的环境适应、繁殖和代谢效率相关的候选基因。主要发现包括奥斯塔牛中TCF12和SRGAP1的缺失,表明肌肉生长和耐力之间的权衡,而荷斯坦牛中ELF2和ARID5B的增加表明其在乳蛋白合成和饲料效率方面的能力。此外,生殖基因(RGS3、GSE1、MARCH10)在兼用型和荷斯坦品种之间表现出不同的选择压力,反映了对不同生产系统的适应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec83/12215704/5206b01da701/41598_2025_7165_Fig1_HTML.jpg

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