牛全基因组拷贝数变异研究进展

Research Progress on Genomic Copy Number Variations in Cattle

拷贝数变异(Copy number variation,CNV)作为基因组结构变异(Structural variation,SV)的重要组成部分,在物种表型变异、疾病易感性评估、物种演化等方面起着重要作用。目前,高通量、高分辨率的全基因组CNV研究已广泛应用到各种家畜中,并成为全基因组关联性分析(Genome-wide association analysis,GWAS)研究复杂性状的重要分子标记。此外,CNV还为群体遗传结构分析提供新的视角。因此,本文从定义、形成机制、分布特点、检测方法、遗传效应和牛Y染色体CNV等方面对牛全基因组CNV研究进行了较为全面的介绍与阐述,提出全基因组CNV研究所面临的一些问题,并对发展前景做了简单展望,以期为今后牛全基因组CNV的研究提供指导信息。

Copy number variation（CNV）,as an important component of genomic structural variation（SV）,plays important roles in phenotypic variability,disease susceptibility estimates and species evolution.Currently,a large number of studies have been widely conducted to analyze genome-wide CNV of domestic animals using high throughput and density technologies,which enable CNV as an important molecular marker for complex traits in genome-wide association analysis study（GWAS）.In addition,CNV provides a new insight into the analysis of population genetic structure.Therefore,this review comprehensively summarized definition,formation mechanism,distribution characteristics,analyzing methods,genetic effect of CNV in cattle and the CNV on bovine Y chromosome based on previous studies.Meanwhile,we also raised some problems in current CNV studies,and provide a brief outlook of the future for CNV studies,which would supply guidance for cattle genome CNV studies in the future.