Article
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.
Biochimica et biophysica acta. Gene regulatory mechanisms - 1 Nov 2017
Gherardi Samuele, Bovolenta Matteo, Passarelli Chiara, Falzarano Maria Sofia, Pigini Paolo, Scotton Chiara, Neri Marcella, Armaroli Annarita, Osman Hana, Selvatici Rita, Gualandi Francesca, Recchia Alessandra, Mora Marina, Bernasconi Pia, Maggi Lorenzo, Morandi Lucia, Ferlini Alessandra, Perini Giovanni
Abstract excerpt
The dystrophin gene (DMD) is the largest gene in the human genome, mapping on the Xp21 chromosome locus. It spans 2.2Mb and accounts for approximately 0,1% of the entire human genome. Mutations in this gene cause Duchenne and Becker Muscular Dystrophy, X-linked Dilated Cardiomyopathy, and other milder muscle phenotypes. Beside the remarkable number of reports describing dystrophin gene expression and the...
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