The human desmin gene: a specific regulatory programme in skeletal muscle both in vitro and in transgenic mice.
Desmin synthesis is restricted to cardiac, skeletal and smooth muscles. In several familial myopathies involving fibre disorganization, filamentous aggregation of desmin has been characterized. During the development of the mouse embryo, desmin is one of the first muscle proteins detected in both the heart and the somites. To identify the DNA sequences involved in the regulation of desmin gene expression a 4.5 kb 5'-flanking region of the human desmin gene has been isolated. Different mutants were used to characterize specific enhancers in vitro and in vivo. The results obtained with transgenic mice provide evidence that the 1 kb cis-regulatory sequences, functional in skeletal muscle cells in vitro, confer specific developmental control for skeletal muscles. Furthermore, distinct programmes for cardiac and skeletal muscle-specific expression of the desmin gene are revealed.
Li
Z
Z
Institut Pasteur, Paris, France.
Colucci
E
E
Babinet
C
C
Paulin
D
D
D000818:Animals; D001483:Base Sequence; D016384:Consensus Sequence; D003893:Desmin / Q000096:biosynthesis* / Q000235:genetics*; D004622:Embryo, Mammalian; D004742:Enhancer Elements, Genetic; D005786:Gene Expression Regulation; D006321:Heart / Q000196:embryology; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009132:Muscles / Q000196:embryology / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism
D003893:Desmin