Maintaining the integrity of spermatogenic stem cells is essential to transfer genetic information to a descendant. However, knowledge of maintenance of genetic stability in stem cells is still limited. RAD18 is critical for postreplication repair through mono- and multi-ubiquitination of proliferating cell nuclear antigen (PCNA) to maintain genomic stability. Mammalian RAD18 is highly expressed in the spermatocytes and the nuclei of a few spermatogonia in adult mice. To elucidate the physiological function of RAD18, we analyzed a phenotype of Rad18-/- mice. The mice were born and appeared to grow normally. Although the mice were fertile, fertility and testis weight decreased with age. Histological examination revealed normal spermatogenesis in almost all seminiferous tubules in Rad18-/- testes at 2 months old, and abnormal sperm could not be detected in the epididymis. However, 25% of the tubules lost almost all germ cells at 12 months. The seminiferous tubules frequently retained only late differentiated phase germ cells, suggesting that the exhaustion of spermatogonial stem cells leads to the loss of all germ cells in the seminiferous tubules. Wild-type germ cells were successfully transplanted into and colonized in the seminiferous tubules of aged Rad18-/- mice, indicating that Sertoli cells have a normal supportive function even in aged testes. We conclude that RAD18 is intrinsically required for the long-term maintenance of spermatogenesis.

译文

:维持生精干细胞的完整性对于将遗传信息传递给后代至关重要。但是,维持干细胞遗传稳定性的知识仍然有限。 RAD18通过增殖细胞核抗原(PCNA)的单泛素化和多泛素化来维持基因组稳定性,对于复制后修复至关重要。哺乳动物RAD18在成年小鼠的精细胞和少数精原细胞的核中高度表达。为了阐明RAD18的生理功能,我们分析了Rad18-/-小鼠的表型。小鼠出生并且看上去正常生长。尽管小鼠具有生育能力,但其生育力和睾丸重量会随着年龄的增长而下降。组织学检查显示,在两个月大的Rad18-/-睾丸中,几乎所有曲细精管中的精子发生均正常,并且在附睾中未检测到异常的精子。但是,在12个月时,有25%的肾小管几乎失去了所有生殖细胞。曲细精管经常仅保留晚期分化期的生殖细胞,这表明精原干细胞的耗尽导致了曲细精管中所有生殖细胞的丢失。野生型生殖细胞已成功移植到老年Rad18-/-小鼠的生精小管中并在其中繁殖,这表明Sertoli细胞即使在老年睾丸中也具有正常的支持功能。我们得出结论,RAD18是精子发生长期维持的内在要求。

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