SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic derepression of the 4q-linked D4Z4 macrosatellite repeat resulting in inappropriate expression of the D4Z4 repeat-encoded DUX4 gene in skeletal muscle. In 5% of FSHD cases, D4Z4 chromatin relaxation is due to germline mutation...

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Detalles Bibliográficos
Autores principales: Šikrová, Darina, Testa, Alessandra M., Willemsen, Iris, van den Heuvel, Anita, Tapscott, Stephen J., Daxinger, Lucia, Balog, Judit, van der Maarel, Silvère M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10307901/
https://www.ncbi.nlm.nih.gov/pubmed/37380887
http://dx.doi.org/10.1038/s42003-023-05053-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10307901/
https://www.ncbi.nlm.nih.gov/pubmed/37380887
http://dx.doi.org/10.1038/s42003-023-05053-0

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