Chen Yinghui, Khan Muhammad Zahoor, Wang Xinrui, Liang Huili, Ren Wei, Kou Xiyan, Liu Xiaotong, Chen Wenting, Peng Yongdong, Wang Changfa
College of Agronomy and Agricultural Engineering Liaocheng University, Liaocheng, China.
Front Vet Sci. 2024 Nov 12;11:1416220. doi: 10.3389/fvets.2024.1416220. eCollection 2024.
Genomic structural variation (SV) refers to differences in gene sequences between individuals on a genomic scale. It is widely distributed in the genome, primarily in the form of insertions, deletions, duplications, inversions, and translocations. Due to its characterization by long segments and large coverage, SVs significantly impact the genetic characteristics and production performance of livestock, playing a crucial role in studying breed diversity, biological evolution, and disease correlation. Research on SVs contributes to an enhanced understanding of chromosome function and genetic characteristics and is important for understanding hereditary diseases mechanisms. In this article, we review the concept, classification, main formation mechanisms, detection methods, and advancement of research on SVs in the genomes of cattle, buffalo, equine, sheep, and goats, aiming to reveal the genetic basis of differences in phenotypic traits and adaptive genetic mechanisms through genomic research, which will provide a theoretical basis for better understanding and utilizing the genetic resources of herbivorous livestock.
基因组结构变异（SV）是指个体间基因组水平上基因序列的差异。它广泛分布于基因组中，主要形式为插入、缺失、重复、倒位和易位。由于其具有片段长、覆盖范围大的特点，SV对家畜的遗传特性和生产性能有显著影响，在研究品种多样性、生物进化和疾病相关性方面发挥着关键作用。对SV的研究有助于加深对染色体功能和遗传特性的理解，对了解遗传性疾病机制具有重要意义。在本文中，我们综述了牛、水牛、马、绵羊和山羊基因组中SV的概念、分类、主要形成机制、检测方法及研究进展，旨在通过基因组研究揭示表型性状差异的遗传基础和适应性遗传机制，为更好地理解和利用草食家畜遗传资源提供理论依据。
