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British Medical Bulletin 45:681-702 (1989)
© 1989 The British Council

research-article

Myogenic regulation of dystrophin gene expression

H J Klamut, E E Zubrzycka-Gaarn, D E Bulman, S B Malhotra, S E Bodrug, R G Worton and P N Ray

The Genetics Department and Research Institute, The Hospital for Sick Children and the Departments of Medical Genetics and Medical Biophysics, University of Toronto Toronto, Ontario, Canada

Abstract

Muscle-specific transcriptional regualtion of DMD gene expression has been inferred from both the histopathology of the disease and, more recently, from the use of cDNA sequences to detect DMD gene transcripts by Northern blot, RNase protection, in situ hybridization, and polymerase chain reaction (PCR) analyses. Several muscle-specific genes have been shown to be transcriptionally activated early in myogenesis and a number of cis-acting promoter elements required for muscle-specific transcriptional induction have been described. In this report we review our recent progress on studies of the mechanisms underlying myogenic regualation of dystrophin gene expression. Indirect immunofluorescence has been used to demonstrate that dystrophin is present at the cloning and sequencing of the dystrophin gene promoter reveals the presence of pre-defined muscle-specific cis-acting promoter elements. Functional assays provide evidence that these upstream sequences are capable of regualting DMD gene expression in a Cell- and development stage-specific manner.


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