ArticleRNA biology2016
Non-sequential and multi-step splicing of the dystrophin transcript.
Article in RNA biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 71 citations in OpenAlex.
- Correlative multimodal imaging for microscale spatial mapping of collagen-gene activity interactions in human tissues.Npj imaging · 2026Article
- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Spatiotemporal analysis of dystrophin expression during muscle repair.Skeletal muscle · 2025Article
- Understanding Duchenne muscular dystrophy-associated brain pathology.Disease models & mechanisms · 2025Review
- Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Genome research · 2025Article
- Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells.Skeletal muscle · 2024Article
- The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation.Cellular and molecular life sciences : CMLS · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.Scientific reports · 2023Article
- Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts.Nature structural & molecular biology · 2023Article
- When SizeBiomedicines · 2023Article
- Recursive splicing discovery using lariats in total RNA sequencing.Life science alliance · 2023Article
- Article
- Exon Skipping Through Chimeric AntisenseNucleic acid therapeutics · 2022Article
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.HGG advances · 2022Article
- The Exon Junction Complex Core Represses Cancer-Specific Mature mRNA Re-splicing: A Potential Key Role in Terminating Splicing.International journal of molecular sciences · 2021Article
- Article
- Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants inInternational journal of molecular sciences · 2021Article
- Systematics for types and effects of RNA variations.RNA biology · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dystrophin protein encoding DMD gene is the longest human gene. The 2.2 Mb long human dystrophin transcript takes 16 hours to be transcribed and is co-transcriptionally spliced. It contains long introns (24 over 10kb long, 5 over 100kb long) and the heterogeneity in intron size makes it an ideal transcript to study different aspects of the human splicing process. Splicing is a complex process and much is unknown regarding the splicing of long introns in human genes. Here, we used ultra-deep transcript sequencing to characterize splicing of the dystrophin transcripts in 3 different human skeletal muscle cell lines, and explored the order of intron removal and multi-step splicing. Coverage and read pair analyses showed that around 40% of the introns were not always removed sequentially. Additionally, for the first time, we report that non-consecutive intron removal resulted in 3 or more joined exons which are flanked by unspliced introns and we defined these joined exons as an exon block. Lastly, computational and experimental data revealed that, for the majority of dystrophin introns, multistep splicing events are used to splice out a single intron. Overall, our data show for the first time in a human transcript, that multi-step intron removal is a general feature of mRNA splicing.
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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.