动物全基因组拷贝数变异及其应用

Copy Number Variations of Animals Genomes and their Further Applications

动物基因组研究的核心内容是了解引起表型差异的分子遗传基础。拷贝数变异(CNVs)作为基因组中一种新的变异形式,在表型多样性和遗传进化研究中占有非常重要的位置。由于CNVs在基因组中所占的片段较长,有的能够包含整个基因,因此,可以通过基因剂量改变,影响基因的表达,进而导致该基因控制的表型变化。研究表明,有的CNVs区域与表型差异有着密切的关系。本文介绍了CNVs的发现、作用机制,重点阐述了CNVs所产生的剂量效应及其在动物表型变异研究中的应用,为动物遗传育种提供了新的方法和思路。

The core point of genomic research in animals was to acquaint the molecular genetic basis of phenotypic differences. As a new type of genomic variations, copy number variations （CNVs） played im- portant roles in phenotypic diversity and genetic evolution. CNVs were known to cover long rang in ge- nome, and of these, many CNV regions included the whole sequences of functional genes. Therefore, the CNVs were likely to affect related gene expression, and ultimately altering the phenotypic variations by gene dosage effect. Previous studies reported that several CNV regions were significantly associated with phenotypic variations. In this paper, we described the discovery and molecular mechanisms of CNVs, fo- cusing on the dosage effect of CNVs and their applications in phenotypic variation research of animals. All the information will provide promising methods and idea for animal breeding programs.