ArticleScientific reports2017
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.Human molecular genetics · 2023Pooled it
- Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation.bioRxiv : the preprint server for biology · 2025Article
- Spatiotemporal analysis of dystrophin expression during muscle repair.Skeletal muscle · 2025Article
- AOC 1044 induces exon 44 skipping and restores dystrophin protein in preclinical models of Duchenne muscular dystrophy.Nucleic acids research · 2025Article
- The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.Cellular and molecular life sciences : CMLS · 2024Article
- CRISPR activation to characterize splice-altering variants in easily accessible cells.American journal of human genetics · 2024Article
- Advances in Dystrophinopathy Diagnosis and Therapy.Biomolecules · 2023Review
- When SizeBiomedicines · 2023Article
- Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.Journal of medical genetics · 2023Article
- Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology.International journal of molecular sciences · 2022Review
- Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.Annals of neurology · 2022Article
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.International journal of molecular sciences · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Pseudoexons of the DMD Gene.Journal of neuromuscular diseases · 2020Review
- Schwann cell-specific Dp116 is expressed in glioblastoma cells, revealing two novelBiochemistry and biophysics reports · 2019Article
- Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.Annals of clinical and translational neurology · 2019Article
- Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies.Nature communications · 2018Article
- The complexity of titin splicing pattern in human adult skeletal muscles.Skeletal muscle · 2018Article
- Low-level dystrophin expression attenuating the dystrophinopathy phenotype.Neuromuscular disorders : NMD · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analysed the splicing pattern of the human Duchenne Muscular Dystrophy (DMD) transcript in normal skeletal muscle. To achieve depth of coverage required for the analysis of this lowly expressed gene in muscle, we designed a targeted RNA-Seq procedure that combines amplification of the full-length 11.3 kb DMD cDNA sequence and 454 sequencing technology. A high and uniform coverage of the cDNA sequence was obtained that allowed to draw up a reliable inventory of the physiological alternative splicing events in the muscular DMD transcript. In contrast to previous assumptions, we evidenced that most of the 79 DMD exons are constitutively spliced in skeletal muscle. Only a limited number of 12 alternative splicing events were identified, all present at a very low level. These include previously known exon skipping events but also newly described pseudoexon inclusions and alternative 3' splice sites, of which one is the first functional NAGNAG splice site reported in the DMD gene. This study provides the first RNA-Seq-based reference of DMD splicing pattern in skeletal muscle and reports on an experimental procedure well suited to detect condition-specific differences in this low abundance transcript that may prove useful for diagnostic, research or RNA-based therapeutic applications.
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