ArticleAmerican journal of human genetics1995
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 82 citations in OpenAlex.
- DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.Circulation. Genomic and precision medicine · 2023Article
- The multifaceted view of heart problem in Duchenne muscular dystrophy.Cellular and molecular life sciences : CMLS · 2021Review
- Myogenesis modelled by human pluripotent stem cells: a multi-omic study of Duchenne myopathy early onset.Journal of cachexia, sarcopenia and muscle · 2021Article
- Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine.Journal of clinical medicine · 2018Review
- A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.Medicine · 2018Observational
- Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.Frontiers in cardiovascular medicine · 2018Review
- Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Journal of cardiovascular development and disease · 2017Review
- Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.Journal of cardiovascular development and disease · 2017Review
- Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.Journal of the American Heart Association · 2015Article
- X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.Pharmaceuticals (Basel, Switzerland) · 2015Review
- Article
- The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.BMC medical genetics · 2012Article
- Cardiac involvement in Becker muscular dystrophy.The Canadian journal of cardiology · 2008Review
- Experience and strategy for the molecular testing of Duchenne muscular dystrophy.The Journal of molecular diagnostics : JMD · 2005Review
- Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.Heart (British Cardiac Society) · 2004Review
- Pathological changes of the heart in sudden infant death.International journal of legal medicine · 2003Review
- A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.American journal of human genetics · 1998Article
- Effect of adopting a new histological grading system of acute rejection after heart transplantation.Heart (British Cardiac Society) · 1997Article
- Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy.American journal of human genetics · 1997Article
- [Molecular pathogenesis of muscular diseases].Die Naturwissenschaften · 1996Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness. The deletion removed the muscle promoter region and the first muscle exon, but not the brain or Purkinje-cell promoters. Dystrophin was detected immunocytochemically in the skeletal muscle from this family, despite the fact that the deletion eliminated the transcriptional start site of the muscle isoform. In order to determine which promoter was driving dystrophin transcription in skeletal muscle of these individuals, we first evaluated the expression of the exon 1 of muscle, brain, and Purkinje-cell isoforms in normal human skeletal and cardiac muscles and in mouse brain and cerebellum. Our data indicate that, with the exception of minimal expression of the brain isoform, only the muscle isoform is significantly transcribed in skeletal muscle, whereas both the exon 1 muscle and brain isoforms are highly expressed in cardiac muscle. In contrast to what is observed in normal muscle, the skeletal muscle of our patients showed expression of both the brain and the Purkinje-cell isoforms. The overexpression, in skeletal muscle, of these two isoforms thus appears to be of crucial importance in preventing a myopathy in these affected males. The reason for the severe cardiomyopathy remains speculative, in the absence of dystrophin data on their heart. However, we have found in the 5' end of intron 1, a region deleted in our cases, regulatory sequences that might be of importance for dystrophin expression in various tissues.(ABSTRACT TRUNCATED AT 250 WORDS)
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7825571PMC1801315W2232364665What OpenQuestion holds
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