title: Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
abstract: The developmental expression pattern of four human genes, three of which are involved in progressive muscular dystrophies, was investigated. The rationale for these experiments is that these patterns might provide useful information on the pathophysiology underlying these myopathies. Despite the presence of overlapping clinical signs, the spatiotemporal expression profiles of the corresponding genes differed widely. Transcripts of alpha-sarcoglycan (SGCA) were visible as soon as myotomes were formed, and constitute, together with titin transcripts, precocious muscular system landmarks. beta-sarcoglycan (SGCB) was initially transcribed in a ubiquitous manner, and, toward the second part of the embryonic period, became specific to striated muscle, heart, and the central nervous system. Whereas titin (TTN) transcription and translation seem to be coupled, for the sarcoglycans, translation seemed restricted to skeletal muscle. Calpain3 (CAPN3) RNA was found in only skeletal muscles during the fetal period. It was, however, present earlier in the whole heart, where it selectively disappeared. Finally, evidence for differentially spliced calpain3 variants in smooth muscles was also seen. The expression profiles of these genes is suggestive of their having a role during myogenesis, knowledge of which could be pertinent to the understanding of the pathophysiology of the associated diseases.
authors.affiliation: URA 1922, Généthon, Evry, France.
authors.forename: F
authors.initials: F
authors.lastname: Fougerousse
authors.forename: M
authors.initials: M
authors.lastname: Durand
authors.forename: L
authors.initials: L
authors.lastname: Suel
authors.forename: O
authors.initials: O
authors.lastname: Pourquié
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: M
authors.initials: M
authors.lastname: Abitbol
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D000328:Adult; D001483:Base Sequence; D015152:Blotting, Northern; D002154:Calpain / Q000096:biosynthesis / Q000235:genetics; D002454:Cell Differentiation; D064211:Connectin; D003598:Cytoskeletal Proteins / Q000096:biosynthesis / Q000235:genetics; D049030:Dystroglycans; D005314:Embryonic and Fetal Development / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D017403:In Situ Hybridization; D007527:Isoenzymes / Q000096:biosynthesis / Q000235:genetics; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000235:genetics; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000096:biosynthesis / Q000235:genetics; D009132:Muscles / Q000196:embryology / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D011494:Protein Kinases / Q000096:biosynthesis / Q000235:genetics; D049031:Sarcoglycans
chemical_list: D064211:Connectin; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D007527:Isoenzymes; D008562:Membrane Glycoproteins; D009124:Muscle Proteins; C483098:SGCB protein, human; D049031:Sarcoglycans; C577285:TTN protein, human; D049030:Dystroglycans; D011494:Protein Kinases; C105884:CAPN3 protein, human; D002154:Calpain