ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing

Hypomorphic mutations in DNA-methyltransferase DNMT3B cause majority of the rare disorder Immunodeficiency, Centromere instability and Facial anomalies syndrome cases (ICF1). By unspecified mechanisms, mutant-DNMT3B interferes with lymphoid-specific pathways resulting in immune response defects. Int...

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Detalles Bibliográficos
Autores principales: Gatto, Sole, Gagliardi, Miriam, Franzese, Monica, Leppert, Sylwia, Papa, Mariarosaria, Cammisa, Marco, Grillo, Giacomo, Velasco, Guillame, Francastel, Claire, Toubiana, Shir, D’Esposito, Maurizio, Angelini, Claudia, Matarazzo, Maria R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Gene regulation, Chromatin and Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449610/
https://www.ncbi.nlm.nih.gov/pubmed/28334849
http://dx.doi.org/10.1093/nar/gkx163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449610/
https://www.ncbi.nlm.nih.gov/pubmed/28334849
http://dx.doi.org/10.1093/nar/gkx163

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