家养动物基因组拷贝数变异研究进展及其育种应用展望

Progress and Prospects in Domestic Animals and Breeding :a Review of Genomic Copy Number Variations

家养动物参考基因组组装的不断完善和群体重测序数据的持续增加促进了基因组中大量变异的发现。基因组上的变异主要包括单核苷酸变异(SNP)和拷贝数变异(CNV)两种类型。相对于数量众多,已经被广泛研究和用作分子育种标记SNP,目前已经被发现和经过实验验证其功能的CNV数量较少,鲜有被直接用作分子标记进行育种的报道。CNV片段长度大、在基因组中普遍存在且比SNP变异覆盖的基因组范围更广,所以可能对农艺性状造成很大影响,其在畜禽基因组研究和育种应用中具有广阔前景。重点讨论了家养动物CNV的研究进展,并对其在家养动物育种中的应用进行了分析展望。

The significant progress of de novo assembly and re-sequencing of agricultural animal genomes, promoted the discovery of abundant genetic variations. Global variations mainly include single nucleotide polymorphisms（SNPs）and copy number variations（CNVs）. Unlike SNPs, which have been widely studied and applied as molecular marker in breeding, fewer CNVs have been detected and experimental validated. Therefore, CNVs rarely serve as molecular markers in breeding. However, the proportion of genome variation ascribed to CNVs are far larger than to SNPs. So CNVs may have great impacts on agronomic traits. Recently, CNV is on the cutting edge of the research studies as well as applications in livestock and poultry breeding. In this review, we discuss the research progress of CNV, and its prospects for breeding domestic animals.