Cai Sarah W, Takai Hiroyuki, Walz Thomas, de Lange Titia
Laboratory of Cell Biology and Genetics, The Rockefeller University; New York, NY, USA.
Laboratory of Molecular Electron Microscopy, The Rockefeller University; New York, NY, USA.
bioRxiv. 2023 Oct 26:2023.05.08.539880. doi: 10.1101/2023.05.08.539880.
Telomere maintenance requires extension of the G-rich telomeric repeat strand by telomerase and fill-in synthesis of the C-rich strand by Polα/Primase. Telomeric Polα/Primase is bound to Ctc1-Stn1-Ten1 (CST), a single-stranded DNA-binding complex. Like mutations in telomerase, mutations affecting CST-Polα/Primase result in pathological telomere shortening and cause a telomere biology disorder, Coats plus (CP). We determined cryogenic electron microscopy structures of human CST bound to the shelterin heterodimer POT1/TPP1 that reveal how CST is recruited to telomeres by POT1. Phosphorylation of POT1 is required for CST recruitment, and the complex is formed through conserved interactions involving several residues mutated in CP. Our structural and biochemical data suggest that phosphorylated POT1 holds CST-Polα/Primase in an inactive auto-inhibited state until telomerase has extended the telomere ends. We propose that dephosphorylation of POT1 releases CST-Polα/Primase into an active state that completes telomere replication through fill-in synthesis.
端粒维持需要端粒酶延伸富含鸟嘌呤的端粒重复序列链,并由DNA聚合酶α/引发酶填补富含胞嘧啶链的合成。端粒DNA聚合酶α/引发酶与Ctc1-Stn1-Ten1(CST)结合,CST是一种单链DNA结合复合物。与端粒酶突变一样,影响CST-DNA聚合酶α/引发酶的突变会导致病理性端粒缩短,并引发端粒生物学紊乱——科茨综合征(CP)。我们确定了与端粒保护蛋白异二聚体POT1/TPP1结合的人类CST的低温电子显微镜结构,揭示了POT1如何将CST招募到端粒。CST招募需要POT1磷酸化,并且该复合物通过涉及CP中几个突变残基的保守相互作用形成。我们的结构和生化数据表明,磷酸化的POT1将CST-DNA聚合酶α/引发酶保持在无活性的自抑制状态,直到端粒酶延伸了端粒末端。我们提出,POT1的去磷酸化会使CST-DNA聚合酶α/引发酶释放到活性状态,通过填补合成完成端粒复制。