{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCTC1 is a core component of the heterotrimeric CST complex (CTC1–STN1–TEN1) that safeguards telomere integrity. It directly binds single‐stranded telomeric DNA through multiple OB-fold domains to coordinate end‐replication events by both restricting telomerase‐mediated G-strand extension and promoting DNA polymerase α–dependent C-strand fill-in. In doing so, CST ensures that telomere elongation occurs in a controlled, once-per–cell-cycle manner, thereby protecting chromosome ends from degradation and fusion."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its telomere-specific roles, CTC1 contributes to broader genome maintenance. During replication stress the CST complex localizes to stalled replication forks and GC-rich, repetitive regions, where it helps restart DNA synthesis, prevents excessive nucleolytic degradation (e.g. by MRE11), modulates origin licensing, and even supports proper sister chromatid cohesion. Such functions not only ensure efficient replication of telomeres but also promote overall genomic stability under conditions of stress."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in CTC1 disrupt CST complex formation or its interactions with partner factors such as STN1 and DNA polymerase α, leading to profound telomere dysfunction. Such alterations manifest as abnormal telomere length—whether through uncontrolled telomerase activity or defective C-strand synthesis—and consequent genomic instability. Not surprisingly, diverse disease phenotypes (for example, Coats plus syndrome, dyskeratosis congenita, cerebroretinal microangiopathy with calcifications and cysts, certain interstitial lung diseases, and cancer predisposition) have been linked to compound heterozygous or missense/truncating mutations in CTC1, underscoring its vital role in telomere homeostasis and cellular proliferation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "33"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDetailed structural and computational studies have provided further insight into CTC1’s function. Analyses of its central OB-fold domain have identified critical residues necessary for stable CST complex assembly and proper telomere localization, while in silico investigations of disease-associated nonsynonymous SNPs reveal how disruption of key noncovalent interactions can destabilize CTC1. 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