ArticleNucleic acids research2025
DNA extrusion size determines pathway choice during CAG repeat expansion.
Article in Nucleic acids research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Genetic or pharmacological disruption of the MSH3 Y245/K246 IDL binding pocket slows CAG repeat expansion.NAR molecular medicine · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- Disruption of protein-protein interaction hotspots in the C-terminal domain of MLH1 confers mismatch repair deficiency.NAR cancer · 2025Article
Corrections and comments
- Erratum issued
- Update of
Authors and funding
6 authors.
Funding
Abstract
DNA triplet repeat expansion causes several primarly neurological disorders like Huntington's disease, myotonic dystrophy type 1, and fragile-X related disorders. There is general consensus that recognition of extrahelical extrusions or hairpin-loop structures (formed by strand slippage) by the DNA mismatch repair protein MutSβ leads to repeat expansion by a mutagenic process. By contrast, the FAN1 nuclease attenuates triplet repeat expansion, the molecular basis of which was explained by our recent finding that FAN1 nuclease cleaves and initiates removal of extrahelical extrusions. Here we show that extrusions containing two or more triplet repeats are subject to recognition and processing by either FAN1 or MutSβ. However, extrusions containing a single triplet escape FAN1 cleavage and are preferentially processed by a MutSβ-dependent process, leading to repeat expansion. Thus, extrahelical extrusion size determines the ultimate fate of the repeat element, the protective role of FAN1 being limited to removal of extrusions containing two or more triplets. Therefore, repeat expansion is a net consequence of MutSβ-dependent processing of single triplet extrusions and competition between MutSβ and FAN1 for extrusions containing two or more triplets. These findings provide new insights into the role of DNA structural dynamics in determining pathway choice in DNArepair.
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Registered trials
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