College of Animal Science and Technology, Northwest A & F University, Shaanxi Key Laboratory of Molecular Biology for Agriculture, Yangling, Shaanxi, 712100, China.
Institute of Biology and Medicine, College of Life Science and Health, Wuhan University of Science and Technology, Wuhan, Hubei, 430081, China.
Sci Rep. 2018 Jan 29;8(1):1724. doi: 10.1038/s41598-018-20177-8.
Paired box 7 (PAX7) gene regulates the conversion of muscle satellite cells into myogenic cells and participates in multi-step processes in myogenesis. Expression levels of PAX7 are decisive for its regulatory function. Previous reports revealed that PAX7 were responsible for the developmental traits of muscle. The relationship of the PAX7 promoter variants and livestock phenotypic traits has not been fully elucidated. We detected a novel 10-bp insertion/deletion (indel) polymorphism in the bovine PAX7 promoter and revealed that the indel altered the binding of the transcriptional factor ZNF219. Luciferase reporter assay showed that deletion-deletion (Del-Del) genotype of the PAX7 gene showed 2.79-fold higher promoter activity than the insertion-insertion (Ins-Ins) genotype (P < 0.05), and ZNF219 overexpression significantly diminished the luciferase activity in Ins-Ins groups. Moreover, the expression of PAX7 and its down-stream genes were detected in fetal skeletal muscle of cattle with different PAX7 genotypes, where the Del-Del genotype also displayed high expression levels. Statistical association analysis demonstrated that this indel had significant effects on early growth traits in cattle. These findings provide a complete overview of the function of the PAX7 10-bp variant, which may have potential as a genetic marker for marker-assisted selection in improving economically significant traits of cattle.
配对盒 7 （PAX7）基因调节肌肉卫星细胞向成肌细胞的转化，并参与成肌的多步过程。PAX7 的表达水平对其调节功能起决定性作用。先前的报告显示，PAX7 负责肌肉的发育特征。PAX7 启动子变体与家畜表型特征之间的关系尚未完全阐明。我们在牛 PAX7 启动子中检测到一个新的 10-bp 插入/缺失（indel）多态性，并揭示该 indel 改变了转录因子 ZNF219 的结合。荧光素酶报告基因检测显示，PAX7 基因的缺失缺失（Del-Del）基因型的启动子活性比插入插入（Ins-Ins）基因型高 2.79 倍（P < 0.05），ZNF219 过表达显著降低了 Ins-Ins 组的荧光素酶活性。此外，我们还检测了不同 PAX7 基因型牛胎儿骨骼肌中 PAX7 及其下游基因的表达情况，其中 Del-Del 基因型也表现出高表达水平。统计关联分析表明，该 indel 对牛的早期生长性状有显著影响。这些发现为 PAX7 10-bp 变异的功能提供了全面的概述，它可能作为一种遗传标记，用于标记辅助选择，以提高牛的经济重要性状。
