背景:端粒是位于染色体末端的独特结构。保留端粒的结构和功能对于维持哺乳动物雄性减数分裂期间的基因组稳定性和促进遗传多样性至关重要。
方法:这篇综述汇编了有关小鼠和人类雄性减数分裂过程中端粒功能和调节的最新文献,并强调了端粒在生殖生物学和医学中的关键作用。
■各种结构,由LINC复合物(SUN-KASH)组成,SPDYA-CDK2,TTM三聚体(TERB1-TERB2-MAJIN),还有Shelterin,对控制端粒活动至关重要,如核信封附件和花束形成。除了端粒相关蛋白,还强调了负责调节端粒功能的相干蛋白和基因,尽管确切的机制尚不清楚。具有减数分裂缺陷的基因突变小鼠模型直接揭示了端粒在雄性减数分裂中的重要作用。最近报道的与端粒活性相关的突变基因在临床实践中也得到了详细说明。
结论:端粒活性的适当调节对于小鼠和人类的雄性减数分裂进程至关重要。
BACKGROUND: 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.
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.
UNASSIGNED: 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.
CONCLUSIONS: Proper regulation of telomere activities is essential for male meiosis progression in mice and humans.