Pseudoexons of the DMD Gene
Open Access
- 8 January 2020
- journal article
- review article
- Published by SAGE Publications in Journal of Neuromuscular Diseases
- Vol. 7 (2) , 77-95
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.Keywords
This publication has 54 references indexed in Scilit:
- Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy PhenotypesPLOS ONE, 2013
- Nested introns in an intron: Evidence of multi‐step splicing in a large intron of the human dystrophin pre‐mRNAFEBS Letters, 2013
- Categorization of 77 dystrophinexons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markersBMC Genetics, 2012
- Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingBMC Medical Genetics, 2011
- Intronic motif pairs cooperate across exons to promote pre-mRNA splicingGenome Biology, 2010
- The Spliceosome: Design Principles of a Dynamic RNP MachineCell, 2009
- A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesBMC Genomics, 2008
- Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skippingHuman Mutation, 2008
- Comprehensive splice-site analysis using comparative genomicsNucleic Acids Research, 2006
- A Novel Cryptic Exon in Intron 2 of the Human Dystrophin Gene Evolved from an Intron by Acquiring Consensus Sequences for Splicing at Different Stages of Anthropoid EvolutionBiochemical and Biophysical Research Communications, 2000