Pei Sheng-Wei, Liu Yang-Kai, Wang Zhong-Yu, Yuan Ze-Hu, Li Wan-Hong, Li Fa-Di, Yue Xiang-Peng
State Key Laboratory of Herbage Improvement and Grassland Agro-Ecosystems, Key Laboratory of Grassland Livestock Industry Innovation, Ministry of Agriculture and Rural Affairs, Engineering Research Center of Grassland Industry, Ministry of Education, College of Pastoral Agriculture Science and Technology, Lanzhou University, Lanzhou, 730020, China.
Joint International Research Laboratory of Agriculture and Agri-Product Safety of Ministry of Education, Yangzhou University, Yangzhou, China.
BMC Genomics. 2025 Feb 19;26(1):165. doi: 10.1186/s12864-024-11166-5.
Cryptorchidism is one of the most common reproductive abnormalities in rams, which seriously harms the reproductive capacity of rams and causes significant economic losses to the sheep industry. However, there are few studies elucidating its hereditary predisposition in sheep.
In the present study, the transcriptome and proteome of the cryptic (CT) and contralateral (CLT) testis from four unilaterally cryptorchid rams, and the normal testis (NT) from four healthy rams were analyzed using RNA-seq and TMT-based proteomics, respectively. A total of 10,357, 10,175, and 132 differentially expressed genes (DEGs) were identified between CT vs. CLT, CT vs. NT, and CLT vs. NT. Venn diagram showed that 9744 DEGs (5499 up-regulated and 4245 down-regulated) shared in CT vs. CLT and CT vs. NT. Functional enrichment analysis revealed that 5499 up-regulated DEGs were mainly involved in regulation of programmed cell death and metabolic process, while 4245 down-regulated DEGs were closely related to reproductive process, such as spermatogenesis, sexual reproduction, reproduction and male gamete generation. Furthermore, 325 overlapped genes (114 up-regulated and 211 down-regulated) between DEGs and DAPs that shared the same regulatory status were identified by combining transcriptomics and proteomics. Ten genes, including AKAP4, AKAP3, FSIP2, HSPA1L, HSPA4L, TUBB, TXNRD2, CDC42, PGK1 and HSPA1A, were identified as candidate key genes related to unilateral cryptorchidism.
Our results revealed that both gene and protein expression in the cryptic testis of unilateral cryptorchid rams is massively altered. Bioinformatics analysis unveiled several candidate genes and signaling pathways potentially involved in unilateral cryptorchidism. These findings provide new insights into the molecular mechanism underlying spermatogenesis failure caused by cryptorchidism.
隐睾症是公羊最常见的生殖异常之一，严重损害公羊的生殖能力，给养羊业造成重大经济损失。然而，关于绵羊隐睾症遗传易感性的研究较少。
在本研究中，分别使用RNA测序和基于TMT的蛋白质组学分析了4只单侧隐睾公羊的隐睾（CT）和对侧睾丸（CLT）以及4只健康公羊的正常睾丸（NT）的转录组和蛋白质组。在CT与CLT、CT与NT、CLT与NT之间分别鉴定出10357、10175和132个差异表达基因（DEG）。维恩图显示，CT与CLT以及CT与NT之间共有9744个DEG（5499个上调和4245个下调）。功能富集分析表明，5499个上调的DEG主要参与程序性细胞死亡调控和代谢过程，而4245个下调的DEG与生殖过程密切相关，如精子发生、有性生殖、生殖和雄配子生成。此外，通过整合转录组学和蛋白质组学，鉴定出325个在DEG和DAP之间重叠的基因（114个上调和211个下调），它们具有相同的调控状态。包括AKAP4、AKAP3、FSIP2、HSPA1L、HSPA4L、TUBB、TXNRD2、CDC42、PGK1和HSPA1A在内的10个基因被鉴定为与单侧隐睾症相关的候选关键基因。
我们的结果表明，单侧隐睾公羊隐睾中的基因和蛋白质表达均发生了大量改变。生物信息学分析揭示了几个可能参与单侧隐睾症的候选基因和信号通路。这些发现为隐睾症导致精子发生失败的分子机制提供了新的见解。
