Article
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.
Nucleic acids research - 2 Jun 2017
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
Abstract excerpt
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. Interestingly, recent findings report that DNMT3B shapes intragenic CpG-methylation of highly-transcribed genes....
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