ArticleHuman genetics1996
Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 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
- Ineffective behavioral rescue despite partial brain Dp427 restoration by AAV9-U7-mediated exon 51 skipping inMolecular therapy. Nucleic acids · 2025Article
- Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.Developmental medicine and child neurology · 2025Article
- A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.Acta neuropathologica communications · 2025Article
- The role of dystrophin isoforms and interactors in the brain.Brain : a journal of neurology · 2025Review
- On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Learning, memory and blood-brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp140.Genes, brain, and behavior · 2024Article
- Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.Journal of cachexia, sarcopenia and muscle · 2022Article
- Mechanisms and Consequences of Cerebellar Purkinje Cell Disinhibition in a Mouse Model of Duchenne Muscular Dystrophy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Targeting IRES-dependent translation as a novel approach for treating Duchenne muscular dystrophy.RNA biology · 2021Review
- The multifaceted view of heart problem in Duchenne muscular dystrophy.Cellular and molecular life sciences : CMLS · 2021Review
- Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling.Pflugers Archiv : European journal of physiology · 2021Review
- Epigenetic modifications in muscle regeneration and progression of Duchenne muscular dystrophy.Clinical epigenetics · 2021Review
- Cognitive impairment appears progressive in the mdx mouse.Neuromuscular disorders : NMD · 2020Article
- Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy.Molecular neurobiology · 2020Review
- Single-transcript multiplexWellcome open research · 2020Article
- Repurposing Pathogenic Variants ofCurrent genomics · 2019Article
- A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.Medicine · 2018Observational
- Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.Scientific reports · 2017Article
- Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.Human genetics · 2015Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal muscle and adult brain identified two alternatively spliced sequences, one that encodes a full-length dystrophin mRNA and a second that transcribes a termination codon 27 nucleotides (8 amino acids) after the ATG initiation site. Alternative splicing of this truncated coding transcript was developmentally regulated, and it was expressed as the major form in adult cortical brain and adult heart. The biological significance of this peptide remains unclear. The full-length transcript was the major form in fetal cortical brain and adult skeletal muscle. Ribonuclease protection assay demonstrated that as much as 20% of dystrophin transcription in normal adult skeletal muscle was derived from the full-length transcript from the P promoter. In contrast, adult heart did not express significant levels of P promoter derived transcripts. Thus, transcripts from the P promoter were found to be developmentally regulated in the brain, and its activity was differentially expressed in skeletal versus cardiac muscle tissues. These data show that the P promoter transcript displays a broader scope of expression, regulation, and complexity than previously appreciated.
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