Yin Lisha, Jiang Nan, Li Tao, Zhang Youzhi, Yuan Shuiqiao
Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
School of Pharmacy, Xianning Medical College, Hubei University of Science and Technology; Hubei Engineering Research Center of Traditional Chinese Medicine of South Hubei Province, Xianning, China.
Andrology. 2025 Jul;13(5):1170-1180. doi: 10.1111/andr.13631. Epub 2024 Mar 21.
Telomeres are unique structures situated at the ends of chromosomes. Preserving the structure and function of telomeres is essential for maintaining genomic stability and promoting genetic diversity during male meiosis in mammals.
MATERIAL-METHODS: This review compiled recent literature on the function and regulation of telomeres during male meiosis in both mice and humans, and also highlighted the critical roles of telomeres in reproductive biology and medicine.
RESULTS-DISCUSSION: Various structures, consisting of the LINC complex (SUN-KASH), SPDYA-CDK2, TTM trimer (TERB1-TERB2-MAJIN), and shelterin, are critical in controlling telomeric activities, such as nuclear envelope attachment and bouquet formation. Other than telomere-related proteins, cohesins and genes responsible for regulating telomere function are also highlighted, though the exact mechanism remains unclear. The gene-mutant mouse models with meiotic defects directly reveal the essential roles of telomeres in male meiosis. Recently reported mutant genes associated with telomere activity in clinical practice have also been illustrated in detail.
Proper regulation of telomere activities is essential for male meiosis progression in mice and humans.
端粒是位于染色体末端的独特结构。在哺乳动物雄性减数分裂过程中,维持端粒的结构和功能对于保持基因组稳定性和促进遗传多样性至关重要。
本综述汇编了近期关于小鼠和人类雄性减数分裂过程中端粒功能和调控的文献,并强调了端粒在生殖生物学和医学中的关键作用。
由LINC复合体(SUN-KASH)、SPDYA-CDK2、TTM三聚体(TERB1-TERB2-MAJIN)和保护素组成的各种结构,在控制端粒活动(如核膜附着和花束形成)方面至关重要。除了端粒相关蛋白外,还强调了黏连蛋白和负责调控端粒功能的基因,尽管确切机制尚不清楚。具有减数分裂缺陷的基因敲除小鼠模型直接揭示了端粒在雄性减数分裂中的重要作用。最近在临床实践中报道的与端粒活动相关的突变基因也进行了详细说明。
端粒活动的适当调控对于小鼠和人类雄性减数分裂的进展至关重要。