Zhang Zhilong, Chu Min, Bao Qi, Bao Pengjia, Guo Xian, Liang Chunnian, Yan Ping
Key Laboratory of Yak Breeding Engineering Gansu Province, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China.
Key Laboratory of Animal Genetics and Breeding on Tibetan Plateau, Ministry of Agriculture and Rural Affairs, Lanzhou 730050, China.
Animals (Basel). 2022 Jun 20;12(12):1587. doi: 10.3390/ani12121587.
Copy number variation (CNV) is a structural variant with significant impact on genetic diversity. CNV has been widely used in breeding for growth traits, meat production or quality, and coat color. SRY-like box genes (SOXs) are a class of transcription factors that play a regulatory role in cell fate specification and differentiation. SOX5 and SOX8 belong to subgroups D and E of the SOXs, respectively. Previous studies have shown that SOX5 and SOX8 are essential in the development of bones. In this study, we explored the association between the growth traits and CNVs of SOX5 and SOX8 in 326 Ashidan yaks and detected mRNA expression levels in different tissues. Our results illustrated that CNVs of SOX5 and SOX8 were significantly associated with withers height at 18 months of age and chest girth at 30 months of age (p < 0.05). The CNV combination of SOX5 and SOX8 was significantly associated with withers height at 18 months of age (p < 0.01). SOX5 expression in the lung was significantly higher than in the heart, spleen, kidney, and muscle (p < 0.05). SOX8 expression in the lung was significantly higher than in the liver and muscle (p < 0.05). Our results provide evidence that the CNVs of SOX5 and SOX8 genes could be used as new markers for the selection of yak growth traits.
拷贝数变异（CNV）是一种对遗传多样性有重大影响的结构变异。CNV已广泛应用于生长性状、肉产量或品质以及毛色的育种中。SRY盒基因（SOXs）是一类转录因子，在细胞命运决定和分化中起调节作用。SOX5和SOX8分别属于SOXs的D组和E组。先前的研究表明，SOX5和SOX8在骨骼发育中至关重要。在本研究中，我们探讨了326头阿什旦牦牛中SOX5和SOX8的拷贝数变异与生长性状之间的关联，并检测了不同组织中的mRNA表达水平。我们的结果表明，SOX5和SOX8的拷贝数变异与18月龄的体高和30月龄的胸围显著相关（p < 0.05）。SOX5和SOX8的拷贝数变异组合与18月龄的体高显著相关（p < 0.01）。SOX5在肺中的表达显著高于心脏、脾脏、肾脏和肌肉（p < 0.05）。SOX8在肺中的表达显著高于肝脏和肌肉（p < 0.05）。我们的结果提供了证据，表明SOX5和SOX8基因的拷贝数变异可作为牦牛生长性状选择的新标记。
