College of Animal Science and Technology, Northwest A&F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi, 712100, China.
Department of Forensic Medicine, Xinxiang Medical University, Xinxiang, Henan, 453003, China.
Sci Rep. 2017 May 11;7:46599. doi: 10.1038/srep46599.
The identification of copy number variations (CNVs) allow us to explore genomic polymorphisms. In recent years, significant progress in understanding CNVs has been made in studies of human and animals, however, association and expression studies of CNVs are still in the early stage. It was previously reported that the Cytochrome P-450 4A11 (CYP4A11) gene is located within a copy number variable region (CNVR) that encompasses quantitative trait loci (QTLs) for economic traits like meat quality and milk production. So, this study was performed to determine the presence of CYP4A11 CNV in six distinct cattle breeds, identify its relationship with growth, and explore the biological effects of gene expression. For three CYP4A11 CNV types, Normal was more frequent than Gain or Loss. Association analysis revealed a positive effect of CYP4A11 copy number on growth traits (P < 0.05). One-way analysis of variance (ANOVA) analysis revealed that more CYP4A11 copies increased the gene expression level. Moreover, overexpression of CYP4A11 in vitro revealed its effect on lipid deposit. The data provide evidence for the functional role of CYP4A11 CNV and provide the basis for future applications in cattle breeding.
拷贝数变异（CNVs）的鉴定使我们能够探索基因组多态性。近年来，在人类和动物的研究中，对 CNVs 的理解取得了重大进展，然而，CNVs 的关联和表达研究仍处于早期阶段。先前有报道称，细胞色素 P-450 4A11（CYP4A11）基因位于一个拷贝数可变区域（CNVR）内，该区域包含与肉质和产奶量等经济性状相关的数量性状基因座（QTLs）。因此，本研究旨在确定 6 个不同牛品种中 CYP4A11 CNV 的存在，确定其与生长的关系，并探索基因表达的生物学效应。对于三种 CYP4A11 CNV 类型，正常型比增益型或缺失型更为常见。关联分析显示 CYP4A11 拷贝数对生长性状有正效应（P<0.05）。单因素方差分析（ANOVA）分析显示，更多的 CYP4A11 拷贝数增加了基因表达水平。此外，体外过表达 CYP4A11 显示其对脂质沉积的影响。这些数据为 CYP4A11 CNV 的功能作用提供了证据，并为未来在牛育种中的应用提供了基础。
