TRANSLATIONAL PHYSIOLOGY Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)
نویسندگان
چکیده
Valentina Sancisi,* Elena Germinario,* Alessandra Esposito, Elisabetta Morini, Samantha Peron, Maurizio Moggio, Giuliano Tomelleri, Daniela Danieli-Betto, and Rossella Tupler Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Biomedical Sciences, University of Padova, Padova, Italy; Interuniversity Institute of Myology, Italy; Neuromuscular Unit, Istituto di Ricovero e Cura a Carattere Scientifico Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy; Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy; and Program in Gene Function and Expression, University of Massachusetts Medical School, Worcester, Massachusetts
منابع مشابه
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is characterized by atrophy and weakness of selective muscle groups. FSHD is considered an autosomal dominant disease with incomplete penetrance and unpredictable variability of clinical expression within families. Mice overexpressing FRG1 (FSHD region gene 1), a candidate gene for this disease, develop a progressive m...
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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease with no effective treatment. The genetic cause of FSHD is complex and the primary pathogenic insult underlying the muscle disease is unknown. Several disease candidate genes have been proposed including DUX4 and FRG1. Expression analysis studies of FSHD report the deregulation of genes which mediate myoblast differen...
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Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like phenotypes. FRG1 has been implicated in splicing, and we asked how splicing might be involved in FSHD by conducting a genome-wide analysis in FRG1 mic...
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Although recent publications have linked the molecular events driving facioscapulohumeral muscular dystrophy (FSHD) to expression of the double homeobox transcription factor DUX4, overexpression of FRG1 has been proposed as one alternative causal agent as mice overexpressing FRG1 present with muscular dystrophy. Here, we characterize proliferative defects in two independent myoblast lines overe...
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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, sug...
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