家畜基因组拷贝数变异研究进展

doi:10.11843/j.issn.0366-6964.2024.04.002

摘要/Abstract

摘要： 拷贝数变异(copy number variation，CNV)是基因组上50 bp~5 Mb的DNA片段发生拷贝数目变化的结构变异。近年来，随着检测技术的发展，CNV的检测方法从广泛使用的CGH、SNP和NGS技术延展到新兴的第三代测序技术，使得越来越多对家畜的起源进化和遗传育种等方面有着重要影响的CNV被鉴定。但是，目前从检测技术发展的角度综述有关CNV在牛、羊、猪、马等家畜上的研究进展还较少。因此，本文首先介绍了CNV的主要形成机制、检测方法，然后，分别综述近年来在牛、羊、猪、马等重要家畜物种中利用CGH、SNP、WGS(包括第二代测序和第三代测序)技术检测CNV的研究进展，最后，对家畜CNV在当下研究中存在的问题及其在未来动物遗传育种的应用前景做出展望。本文有望为家畜拷贝数变异相关研究提供新的参考资料。

关键词: 牛, 山羊, 绵羊, 猪, 拷贝数变异, 研究进展

Abstract: Copy number variation (CNV) is a type of structural variation with DNA fragment size ranging from 50 bp to 5 Mb in the genome. In recent years, with the development of detection technology, the application of detection methods of CNVs have expanded from widely used techniques such as CGH, SNP, and NGS to the emerging third-generation sequencing technology, leading to more CNVs that play important roles in areas such as the origin evolution and genetic breeding of livestock have been identified. However, comprehensive reviews on the research progress of CNV in livestock such as cattle, sheep, goat, pig and horse from the perspective of detection technology development are still lacking up to now. Therefore, this review introduces the main detection methods of CNN firstly. Thus, recent research progress in the detection of CNVs using CGH, SNP, and WGS technologies (including next-generation sequencing and third-generation sequencing) in the important livestock species-cattle, sheep, pig and horse-was comprehensively summarized; Finally, the problems of current research on CNV in domestic animals and its application prospects in animal genetic breeding in the future were proposed. This review is expected to lay the basis for future study on CNV in livestock.

Key words: cattle, goat, sheep, pig, copy number variation, research progress

中图分类号:

S813.1

彭佩雅, 陈钰焓, 杨龙, 王铭, 赵芮葶, 何俊, 印遇龙, 刘梅. 家畜基因组拷贝数变异研究进展[J]. 畜牧兽医学报, 2024, 55(4): 1356-1369.

PENG Peiya, CHEN Yuhan, YANG Long, WANG Ming, ZHAO Ruiting, HE Jun, YIN Yulong, LIU Mei. Research Progress of Copy Number Variation in Livestock[J]. Acta Veterinaria et Zootechnica Sinica, 2024, 55(4): 1356-1369.

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