Article
MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the <i>FMR1</i> locus in fragile X syndrome
2024-12-21
Abstract excerpt
<h4>Background</h4> Repeat-induced epigenetic changes are observed in many repeat expansion disorders (REDs). These changes result in transcriptional deficits and/or silencing of the associated gene. MSH2, a mismatch repair protein that is required for repeat expansion in the REDs, has been implicated in the maintenance of DNA methylation seen in the region surrounding expanded CTG repeats at the DMPK locus in m...
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Identifiers and source
- Literature Corpus work
- 67e53ae2-b89b-567e-84ac-937503862e32
- DOI
- 10.1101/2024.12.20.629815
