SynthesisHuman molecular genetics2023
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.
Synthesis in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 22 citations in OpenAlex.
- Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.BMC medicine · 2026Article
- Dystrophins DP71 and DP427 determine cell viability during proliferation and myofibre differentiation.Cell death & disease · 2026Article
- Optical coherence tomography findings in Duchenne muscular dystrophy.BMC ophthalmology · 2026Article
- Mutation of leucine 170 alters the subcellular distribution, neurite outgrowth and three-dimensional structure of dystrophins Dp71 and Dp40.Molecular biology reports · 2026Article
- Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases.Frontiers in cell and developmental biology · 2026Review
- Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging.Journal of neuromuscular diseases · 2026Article
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
- Article
- Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.Molecular neurobiology · 2025Article
- A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.Acta neuropathologica communications · 2025Article
- Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.Molecular neurobiology · 2025Article
- The role of dystrophin isoforms and interactors in the brain.Brain : a journal of neurology · 2025Review
- Astrocyte proliferation in the hippocampal dentate gyrus is suppressed across the lifespan of dystrophin-deficient mdx mice.Experimental physiology · 2025Article
- Reading skills over time among children with Duchenne muscular dystrophy.Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence · 2025Article
- Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brain.Molecular medicine (Cambridge, Mass.) · 2025Article
- Duchenne muscular dystrophy: recent insights in brain related comorbidities.Nature communications · 2025Review
- The behavioural consequences of dystrophinopathy.Disease models & mechanisms · 2025Article
- Expression of Dystrophin Dp71 Splice Variants Is Temporally Regulated During Rodent Brain Development.Molecular neurobiology · 2024Article
- Dmd mdx mice have defective oligodendrogenesis, delayed myelin compaction and persistent hypomyelination.Disease models & mechanisms · 2024Article
- The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.Cellular and molecular life sciences : CMLS · 2024Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The large DMD gene encodes a group of dystrophin proteins in brain and retina, produced from multiple promoters and alternative splicing events. Dystrophins are core components of different scaffolding complexes in distinct cell types. Their absence may thus alter several cellular pathways, which might explain the heterogeneous genotype-phenotype relationships underlying central comorbidities in Duchenne muscular dystrophy (DMD). However, the cell-specific expression of dystrophins and associated proteins (DAPs) is still largely unknown. The present study provides a first RNA-Seq-based reference showing tissue- and cell-specific differential expression of dystrophins, splice variants and DAPs in mouse brain and retina. We report that a cell type may express several dystrophin complexes, perhaps due to expression in separate cell subdomains and/or subpopulations, some of which with differential expression at different maturation stages. We also identified new splicing events in addition to the common exon-skipping events. These include a new exon within intron 51 (E51b) in frame with the flanking exons in retina, as well as inclusions of intronic sequences with stop codons leading to the presence of transcripts with elongated exons 40 and/or 41 (E40e, E41e) in both retina and brain. PCR validations revealed that the new exons may affect several dystrophins. Moreover, immunoblot experiments using a combination of specific antibodies and dystrophin-deficient mice unveiled that the transcripts with stop codons are translated into truncated proteins lacking their C-terminus, which we called N-Dp427 and N-Dp260. This study thus uncovers a range of new findings underlying the complex neurobiology of DMD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.