Yun Damin, Gao Sheng, Li Xinyao, Shi Jie, Wang Lingling, Bu Tiao, Yang Xiwen, Wu Yunhao, Wu Xiaolong, Sun Fei
Institute of Reproductive Medicine, Medical School of Nantong University, Nantong, Jiangsu 226001, China.
School of Basic Medical Science, Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education, Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region, Ningxia Medical University, Yinchuan, Ningxia 750004, China.
J Genet Genomics. 2025 Jul;52(7):927-941. doi: 10.1016/j.jgg.2024.12.010. Epub 2024 Dec 20.
Spermiogenesis is an indispensable process occurring during the later stages of spermatogenesis. Despite multiple proteins being associated with spermiogenesis, the molecular mechanisms that control spermiogenesis remain poorly characterized. In this study, we show that 1700030J22Rik is exclusively expressed in testes of mice and investigate its roles in spermiogenesis using genetic and proteomic approaches. The deficiency in 1700030J22Rik in male mice results in severe subfertility, characterized by a substantial decrease in sperm concentration, motility, and abnormalities in the flagella. Furthermore, 1700030J22RIK interacts with the A-kinase-anchoring protein AKAP3, and 1700030J22Rik knockout decreases AKAP3 and AKAP4 protein levels. Additionally, the absence of 1700030J22RIK alters spermatozoal levels of the subunits of protein kinase A, leading to reduced protein phosphorylation and impaired sperm motility. This study reveals that 1700030J22Rik plays a crucial role in the organization of sperm morphology and function in mice.
精子形成是精子发生后期不可或缺的过程。尽管有多种蛋白质与精子形成相关，但控制精子形成的分子机制仍未得到充分表征。在本研究中，我们发现1700030J22Rik仅在小鼠睾丸中表达，并使用遗传和蛋白质组学方法研究其在精子形成中的作用。雄性小鼠中1700030J22Rik的缺失导致严重的生育力低下，其特征是精子浓度大幅下降、活力降低以及鞭毛异常。此外，1700030J22RIK与A激酶锚定蛋白AKAP3相互作用，1700030J22Rik基因敲除会降低AKAP3和AKAP4蛋白水平。此外，1700030J22RIK的缺失会改变蛋白激酶A亚基的精子水平，导致蛋白磷酸化减少和精子活力受损。本研究表明，1700030J22Rik在小鼠精子形态和功能的组织中起关键作用。
