Wang Zhipeng, Guo Jing, Guo Yuanyuan, Yang Yonglin, Teng Teng, Yu Qian, Wang Tao, Zhou Meng, Zhu Qiusi, Wang Wenwen, Zhang Qin, Yang Hua
College of Animal Science and Technology, Northeast Agricultural University, Harbin, China.
Key Laboratory of Animal Genetics, Breeding and Reproduction, Education Department of Heilongjiang Province, Harbin, China.
Front Genet. 2020 Jun 9;11:558. doi: 10.3389/fgene.2020.00558. eCollection 2020.
Copy number variations (CNVs) are important genomic structural variations and can give rise to significant phenotypic diversity. Herein, we used high-density 600K SNP arrays to detect CNVs in two synthetic lines of sheep (DS and SHH) and in Hu sheep (a local Chinese breed). A total of 919 CNV regions (CNVRs) were detected with a total length of 48.17 Mb, accounting for 1.96% of the sheep genome. These CNVRs consisted of 730 gains, 102 losses, and 87 complex CNVRs. These CNVRs were significantly enriched in the segmental duplication (SD) region. A CNVR-based cluster analysis of the three breeds revealed that the DS and SHH breeds share a close genetic relationship. Functional analysis revealed that some genes in these CNVRs were also significantly enriched in the olfactory transduction pathway (oas04740), including members of the OR gene family such as , , and . Using association analyses and previous gene annotations, we determined that a subset of identified genes was likely to be associated with body weight, including , , , , and . Together, these results offer valuable information that will guide future efforts to explore the genetic basis for body weight in sheep.
拷贝数变异（CNV）是重要的基因组结构变异，可导致显著的表型多样性。在此，我们使用高密度600K SNP芯片检测了两个绵羊合成系（DS和SHH）以及湖羊（中国本地品种）中的CNV。共检测到919个拷贝数变异区域（CNVR），总长度为48.17 Mb，占绵羊基因组的1.96%。这些CNVR包括730个扩增、102个缺失和87个复杂CNVR。这些CNVR在片段重复（SD）区域显著富集。基于CNVR对三个品种进行聚类分析表明，DS和SHH品种具有密切的遗传关系。功能分析表明，这些CNVR中的一些基因在嗅觉转导通路（oas04740）中也显著富集，包括嗅觉受体（OR）基因家族的成员，如 、 和 。通过关联分析和先前的基因注释，我们确定一部分已鉴定的基因可能与体重相关联，包括 、 、 、 和 。总之，这些结果提供了有价值的信息，将指导未来探索绵羊体重遗传基础的工作。
