牦牛基因组拷贝数变异研究进展

doi:10.11843/j.issn.0366-6964.2024.03.008

畜牧兽医学报 ›› 2024, Vol. 55 ›› Issue (3): 933-943.doi: 10.11843/j.issn.0366-6964.2024.03.008

牦牛基因组拷贝数变异研究进展

徐东辉^1,2,3, 徐宇辉^1,2,3, 李瑞哲^1,2,3, 成海建^4,5, 马志杰^1,2,3*

1. 青海大学畜牧兽医科学院, 西宁 810016;
2. 农业农村部青藏高原畜禽遗传育种重点实验室, 西宁 810016;
3. 青海省高原家畜遗传资源保护与创新利用重点实验室, 西宁 810016;
4. 山东省农业科学院畜牧兽医研究所, 济南 250100;
5. 山东省畜禽疫病防治与繁育重点实验室, 济南 250100

收稿日期:2023-08-08 出版日期:2024-03-23 发布日期:2024-03-27
通讯作者: 马志杰,主要从事动物遗传资源研究,E-mail:zhijiema@126.com
作者简介:徐东辉(1999-),男,山东邹城人,硕士生,主要从事动物遗传资源研究,E-mail:fuliyee@126.com
基金资助:
青海省"昆仑英才·高端创新创业人才"计划（领军人才）项目；国家自然科学基金（31960656）；国家肉牛牦牛产业技术体系专项（CARS-37）

Research Progress of Genome Copy Number Variations in Yak

XU Donghui^1,2,3, XU Yuhui^1,2,3, LI Ruizhe^1,2,3, CHENG Haijian^4,5, MA Zhijie^1,2,3*

1. Academy of Animal Science and Veterinary Medicine, Qinghai University, Xining 810016, China;
2. Key Laboratory of Animal Genetics and Breeding on Tibetan Plateau, Ministry of Agriculture and Rural Affairs, Xining 810016, China;
3. Plateau Livestock Genetic Resources Protection and Innovative Utilization Key Laboratory of Qinghai Province, Xining 810016, China;
4. Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan 250100, China;
5. Shandong Key Lab of Animal Disease Control and Breeding, Jinan 250100, China

Received:2023-08-08 Online:2024-03-23 Published:2024-03-27

摘要/Abstract

摘要： 拷贝数变异（copy number variation， CNV）是基因组结构变异（structural variation， SV）的重要组成部分。与SNP（single nucleotide polymorphism）相比，CNV显示出更丰富的复杂遗传变异，在家畜重要经济性状遗传机理、疾病诱因和物种进化等研究方面具有重要意义。牦牛作为青藏高原的重要牛种，近年来随着高通量测序技术的快速发展和参考基因组的不断升级，其全基因组水平上CNV的研究获得重要进展。本文在阐述基因组CNV的形成原理、作用机制和检测方法基础上，综述了近10年来牦牛基因组CNV的研究现状，分析探究了存在的一些问题与不足，并对其未来的发展和应用趋势进行了展望，以期为深入开展牦牛基因组研究和加速牦牛遗传资源的分子育种进程提供参考。

关键词: 牦牛, 基因组, 拷贝数变异(CNV)

Abstract: Copy number variation (CNV) is an important component of genomic structural variation (SV). Compared with SNP (single nucleotide polymorphism), CNV shows more complex genetic variation, which is of great significance in the study of genetic mechanism of important economic traits, disease inducements, and evolution of species. As a unique bovine species in the Qinghai-Tibet Plateau (QTP), with the rapid development of high-throughput sequencing technology and the continuous upgrading of yak reference genomes, the study of CNV at the whole genome level in yak has made important progress in recent years. Here, on the basis of describing the formation principle, function mechanism and detection method of genomic CNV, the current research status of genomic CNV in yak in recent 10 years were reviewed, and some existing problems and shortcomings were analyzed and explored. Furthermore, the future development and application trends were prospected, in order to provide reference for further yak genome research and accelerating molecular breeding process of yak genetic resources.

Key words: Bos grunniens, genome, copy number variation (CNV)

中图分类号:

S823.85

徐东辉, 徐宇辉, 李瑞哲, 成海建, 马志杰. 牦牛基因组拷贝数变异研究进展[J]. 畜牧兽医学报, 2024, 55(3): 933-943.

XU Donghui, XU Yuhui, LI Ruizhe, CHENG Haijian, MA Zhijie. Research Progress of Genome Copy Number Variations in Yak[J]. Acta Veterinaria et Zootechnica Sinica, 2024, 55(3): 933-943.

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牦牛基因组拷贝数变异研究进展

Research Progress of Genome Copy Number Variations in Yak

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