Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length

Abstract Background Reduced copy number of the D4Z4 macrosatellite at human chromosome 4q35 is associated with facioscapulohumeral muscular dystrophy (FSHD). A pervasive idea is that chromatin alterations at the 4q35 locus following D4Z4 repeat unit deletion lead to disease via inappropriate express...

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Main Authors: Valentina Salsi, Francesca Losi, Monica Salani, Paul D. Kaufman, Rossella Tupler
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Clinical Epigenetics
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Online Access:https://doi.org/10.1186/s13148-025-01881-5
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