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Full-Text Articles in Life Sciences
Dux4 Expression In Fshd Muscle Cells: How Could Such A Rare Protein Cause A Myopathy?, Alexandra Tassin, Dalila Laoudj-Chenivesse, Celine Vanderplanck, Marietta Barro, Sebastien Charron, Eugenie Ansseau, Yi-Wen Chen, Jacques Mercier, Frederique Coppee, Alexandra Belayew
Dux4 Expression In Fshd Muscle Cells: How Could Such A Rare Protein Cause A Myopathy?, Alexandra Tassin, Dalila Laoudj-Chenivesse, Celine Vanderplanck, Marietta Barro, Sebastien Charron, Eugenie Ansseau, Yi-Wen Chen, Jacques Mercier, Frederique Coppee, Alexandra Belayew
Genomics and Precision Medicine Faculty Publications
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent hereditary muscle disorders. It is linked to contractions of the D4Z4 repeat array in 4q35. We have characterized the double homeobox 4 (DUX4) gene in D4Z4 and its mRNA transcribed from the distal D4Z4 unit to a polyadenylation signal in the flanking pLAM region. It encodes a transcription factor expressed in FSHD but not healthy muscle cells which initiates a gene deregulation cascade causing differentiation defects, muscle atrophy and oxidative stress.PITX1 was the first identified DUX4 target and encodes a transcription factor involved in muscle atrophy. DUX4 was …