{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPOLD1 encodes the p125 catalytic subunit of DNA polymerase δ, a key enzyme responsible for lagging‐strand DNA synthesis during genome replication. Its intrinsic 3′–5′ exonuclease proofreading activity is essential for maintaining high replication fidelity and overall genome stability. In addition, POLD1 participates in multiple DNA repair pathways—including base excision repair, mismatch repair, nucleotide excision repair, and double‐strand break repair—that collectively protect cells from the accumulation of deleterious mutations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations, particularly within the exonuclease (proofreading) domain or active site of POLD1, impair its high‐fidelity replication capability and are strongly associated with a predisposition to several cancers such as colorectal and endometrial carcinomas. Germline variants—including specific missense mutations, single–codon deletions, and other exonuclease domain alterations—have been linked not only to polymerase proofreading-associated polyposis (PPAP) but also to multisystem disorders characterized by features such as mandibular hypoplasia, progeroid appearance, lipodystrophy, and deafness. These findings underscore how compromised POLD1 function leads to an ultramutator phenotype, drives tumorigenesis, and, in some instances, gives rise to distinct developmental syndromes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "23"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in genomic replication and repair, emerging evidence points to additional functions of POLD1 in regulating cellular processes such as cell proliferation, aging, and even cytoskeletal organization. Altered expression of POLD1 has been linked with markers of cellular senescence, and unexpected roles in modulating microtubule nucleation at the Golgi complex have been reported, suggesting that POLD1’s activity influences not only DNA synthesis but also cellular architecture. Furthermore, correlations between POLD1 mutations, increased tumor mutational burden, and responsiveness to immunotherapeutic interventions highlight its multifaceted role in human pathology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "24", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Alice J Sigurdson, Michael Hauptmann, Nilanjan Chatterjee, et al. 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