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Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54b

2024-11-06

Abstract excerpt

Microsatellite instability is responsible for the human Repeat Expansion Disorders. The mutation responsible differs from classical cancer-associated microsatellite instability (MSI) in that it requires the mismatch repair proteins that normally protect against MSI. LIG4, an enzyme essential for non-homologous end-joining (NHEJ), the major pathway for double-strand break repair (DSBR) in mammalian cells, protects...

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Literature Corpus work
47c0fa90-0a6f-5a9c-9b75-f48ff9763cde
DOI
10.1101/2024.11.05.621911
Open publication

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Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54bDOI 10.1101/2024.11.05.621911
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