1. Expression of the Dystrophin Gene in Cultured Fibroblasts
- Author
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Axel Kahn, Hélène Gilgenkrantz, Philippe Chafey, J.C. Kaplan, Jean-Philippe Hugnot, Mireille Lambert, Eric Eveno, Institut Cochin (UMR_S567 / UMR 8104), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)
- Subjects
musculoskeletal diseases ,Cerebellum ,congenital, hereditary, and neonatal diseases and abnormalities ,Ratón ,RNA Splicing ,[SDV]Life Sciences [q-bio] ,Molecular Sequence Data ,Biophysics ,Gene Expression ,Polymerase Chain Reaction ,Biochemistry ,Cell Line ,Dystrophin ,Mice ,Exon ,Utrophin ,Gene expression ,medicine ,Animals ,Humans ,RNA, Messenger ,Fibroblast ,Molecular Biology ,Cells, Cultured ,Brain Chemistry ,Base Sequence ,biology ,Muscles ,DNA ,Cell Biology ,Fibroblasts ,musculoskeletal system ,Molecular biology ,medicine.anatomical_structure ,Cell culture ,biology.protein - Abstract
International audience; The dystrophin whose defect is responsible for Duchenne and Becker muscular dystrophies is present in muscle, brain and cerebellum. We describe here the detection of dystrophin in human cultured skin fibroblasts, L809 cells and murine 3T6 cell line. Dystrophin transcripts initiated at the muscle specific first exon can also be amplified by cDNA-PCR from various fibroblastic cells. The expression of the dystrophin gene in fibroblasts could account for some abnormalities observed in patient's fibroblast cultures.
- Published
- 1993