Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development

Details

Serval ID
serval:BIB_F8C0CCA9E3D0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development
Journal
Genomics
Author(s)
Fougerousse  F., Durand  M., Suel  L., Pourquie  O., Delezoide  A. L., Romero  N. B., Abitbol  M., Beckmann  J. S.
ISSN
0888-7543 (Print)
Publication state
Published
Issued date
03/1998
Volume
48
Number
2
Pages
145-56
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar 1
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.
Keywords
Adult Base Sequence Blotting, Northern Calpain/biosynthesis/genetics Cell Differentiation Cytoskeletal Proteins/biosynthesis/genetics Dystroglycans Embryonic and Fetal Development/*genetics *Gene Expression Regulation, Developmental Humans In Situ Hybridization Isoenzymes/biosynthesis/genetics Membrane Glycoproteins/biosynthesis/genetics Molecular Sequence Data Muscle Proteins/biosynthesis/genetics Muscles/embryology/pathology Muscular Dystrophies/*genetics/pathology/physiopathology Polymerase Chain Reaction Protein Kinases/biosynthesis/genetics Sarcoglycans
Pubmed
Web of science
Create date
25/01/2008 16:17
Last modification date
20/08/2019 16:24
Usage data