College of Animal Science and Technology, Northwest A&F University, Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Key Laboratory of Animal Biotechnology, Ministry of Agriculture, Yangling, Shaanxi, 712100, China.
Henan Key Laboratory of Farm Animal Breeding and Nutritional Regulation, Institute of Animal Husbandry and Veterinary Science, Henan Academy of Agricultural Sciences, No.116 Huayuan road, Zhengzhou, 450002, People's Republic of China.
Theriogenology. 2019 Oct 15;138:94-101. doi: 10.1016/j.theriogenology.2019.07.008. Epub 2019 Jul 9.
Sex determining region Y-box 9 (SOX9), an important member of the SRY- type HMGbox (SOX) gene family, plays an important role in the regulation of mammalian reproduction, including sex differentiation during the embryonic development stage and spermatogenesis after birth. To explore the roles of polymorphism and expression of the SOX9 gene in the development of testes, we analyzed the indel of SOX9 in pigs and the corresponding expression level of the SOX9 gene in 7-day and 5-month-old porcine Sertoli cells. Results revealed that the DD haplotype of SOX9 gene as well as the ID genotype were significantly associated with larger testicular weight, while the II haplotype was closely related to the smaller testicular weight. More importantly, the SOX9 gene expression of ID genotyped group was significantly higher than that in II genotyped group. Our results first revealed that the indel polymorphism and expression of SOX9 were significantly associated with pig reproduction traits indicating the critical roles of SOX9 gene in testes development. The study provides a new clue for understanding the regulation of animal reproductive activities.
性别决定区 Y 框 9（SOX9）是 SRY 型 HMGbox（SOX）基因家族的重要成员，在哺乳动物生殖调控中发挥重要作用，包括胚胎发育阶段的性别分化和出生后的精子发生。为了探讨 SOX9 基因多态性和表达在睾丸发育中的作用，我们分析了猪 SOX9 基因的插入/缺失（indel）和 7 天和 5 月龄猪支持细胞中 SOX9 基因的相应表达水平。结果表明，SOX9 基因的 DD 单倍型和 ID 基因型与较大的睾丸重量显著相关，而 II 单倍型与较小的睾丸重量密切相关。更重要的是，ID 基因型组的 SOX9 基因表达明显高于 II 基因型组。我们的研究结果首次揭示了 SOX9 基因的插入/缺失多态性和表达与猪繁殖性状显著相关，表明 SOX9 基因在睾丸发育中具有重要作用。该研究为理解动物生殖活动的调控提供了新的线索。
