Journal article
Pseudoexons of the DMD Gene
Journal of Neuromuscular Diseases, Vol.7(2), pp.77-95
2020
Abstract
The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2Mb. In the decades since DMD was discovered there have been numerous reported cases of pseudoexons (PEs) arising in the mature DMD transcripts of some individuals, either as the result of mutations or as low-frequency errors of the spliceosome. In this review, I collate from the literature 58 examples of DMD PEs and examine the diversity and commonalities of their features. In particular, I note the high frequency of PEs that arise from deep intronic SNVs and discuss a possible link between PEs induced by distal mutations and the regulation of recursive splicing.
Details
- Title
- Pseudoexons of the DMD Gene
- Authors/Creators
- N.P. Keegan (Author/Creator)
- Publication Details
- Journal of Neuromuscular Diseases, Vol.7(2), pp.77-95
- Publisher
- IOS Press
- Identifiers
- 991005541593307891
- Copyright
- © 2020 – IOS Press and the authors
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior