Publications by authors named "Jennifer H G Nguyen"
Trinucleotide repeats are a source of genome instability, causing replication fork stalling, chromosome fragility, and impaired repair. Specialized helicases play an important role in unwinding DNA structures to maintain genome stability. The Srs2 helicase unwinds DNA hairpins, facilitates replication, and prevents repeat instability and fragility.
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- Human RTEL1 is a crucial helicase that plays roles in maintaining telomeres, regulating homologous recombination, and preventing bone marrow failure.
- Research shows that RTEL1 prevents trinucleotide repeat expansions linked to 17 neurological diseases; disrupting RTEL1 increased such expansions in human cells.
- RTEL1's function resembles that of yeast Srs2, as it unwinds problematic hairpin structures to inhibit repeat expansions and prevent chromosome fragility, specifically requiring Rad18 and HLTF for its activity.