Department of Microbiology & Immunology, W. R. Hearst Microbiology Research Center, Weill Cornell Medicine, New York, New York, United States of America.
Sandra and Edward Meyer Cancer Center, Weill Cornell Medicine, New York, New York, United States of America.
PLoS Genet. 2022 May 19;18(5):e1010182. doi: 10.1371/journal.pgen.1010182. eCollection 2022 May.
The telomere G-strand binding protein Pot1 plays multifaceted roles in telomere maintenance and protection. We examined the structure and activities of Pot1 in Ustilago maydis, a fungal model that recapitulates key features of mammalian telomere regulation. Compared to the well-characterized primate and fission yeast Pot1 orthologs, UmPot1 harbors an extra N-terminal OB-fold domain (OB-N), which was recently shown to be present in most metazoans. UmPot1 binds directly to Rad51 and regulates the latter's strand exchange activity. Deleting the OB-N domain, which is implicated in Rad51-binding, caused telomere shortening, suggesting that Pot1-Rad51 interaction facilitates telomere maintenance. Depleting Pot1 through transcriptional repression triggered growth arrest as well as rampant recombination, leading to multiple telomere aberrations. In addition, telomere repeat RNAs transcribed from both the G- and C-strand were dramatically up-regulated, and this was accompanied by elevated levels of telomere RNA-DNA hybrids. Telomere abnormalities of pot1-deficient cells were suppressed, and cell viability was restored by the deletion of genes encoding Rad51 or Brh2 (the BRCA2 ortholog), indicating that homology-directed repair (HDR) proteins are key mediators of telomere aberrations and cellular toxicity. Together, these observations underscore the complex physical and functional interactions between Pot1 and DNA repair factors, leading to context-dependent and dichotomous effects of HDR proteins on telomere maintenance and protection.
端粒 G 链结合蛋白 Pot1 在端粒维持和保护中发挥着多方面的作用。我们研究了真菌模型酿酒酵母中的 Pot1 的结构和活性,该模型重现了哺乳动物端粒调控的关键特征。与经过充分研究的灵长类和裂殖酵母 Pot1 同源物相比,UmPot1 具有额外的 N 端 OB 折叠结构域(OB-N),最近研究表明大多数后生动物都存在该结构域。UmPot1 直接与 Rad51 结合,并调节后者的链交换活性。缺失 OB-N 结构域,该结构域与 Rad51 结合有关,导致端粒缩短,表明 Pot1-Rad51 相互作用有助于端粒维持。通过转录抑制耗尽 Pot1 会引发生长停滞和猖獗的重组,导致多个端粒异常。此外,从 G 链和 C 链转录的端粒重复 RNA 显著上调,并且伴随着端粒 RNA-DNA 杂交水平的升高。pot1 缺陷细胞的端粒异常被抑制,并且通过删除编码 Rad51 或 Brh2(BRCA2 同源物)的基因,细胞活力得以恢复,表明同源重组修复(HDR)蛋白是端粒异常和细胞毒性的关键介质。总之,这些观察结果强调了 Pot1 与 DNA 修复因子之间复杂的物理和功能相互作用,导致 HDR 蛋白对端粒维持和保护产生上下文相关和二分的影响。