牦牛基因组拷贝数变异研究进展

Research Progress of Genome Copy Number Variations in Yak

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。

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.