{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nReplication factor C subunit 1 (RFC1) is the largest component of the replication factor C complex, whose essential canonical function is to load the proliferating cell nuclear antigen (PCNA) onto DNA. This activity is fundamental for DNA replication and repair processes such as Okazaki fragment maturation and the gap‐filling steps of nucleotide excision repair. Structural analyses have defined a BRCT domain within RFC1 that mediates specific DNA contacts, while biochemical studies show that RFC1 cooperates with DNA polymerases—and even with viral proteins like the latency‐associated nuclear antigen (LANA)—to ensure efficient DNA synthesis and maintenance of genomic integrity. In addition to these replicative roles, RFC1 has been found to interact with regulatory proteins such as NF‑κB (RelA) and histone deacetylase 1, suggesting that beyond its clamp‑loading activity, RFC1 can influence transcriptional programs."}, {"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 the realm of neurogenetics, pathogenic intronic repeat expansions in RFC1 have been robustly associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) as well as with late‑onset ataxia. In multiple independent studies, biallelic expansions of non‐reference pentanucleotide repeats—most commonly AAGGG and related motifs—have been identified as the genetic cause of CANVAS. Intriguingly, while some investigations show that these intronic expansions do not alter overall RFC1 mRNA expression, other analyses (including cases with compound heterozygosity for a truncating RFC1 allele) indicate that loss‑of‑function mechanisms may contribute to pathogenesis. Detailed genotypic and haplotype analyses further suggest that these repeat configurations represent recurrent, founder events occurring over millennia; the phenotypic spectrum of affected patients is also broad, spanning isolated sensory neuropathy to a classical combination of cerebellar, vestibular, and peripheral nerve involvement."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "René M Overmeer, Audrey M Gourdin, Ambra Giglia-Mari, et al. 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