Biochemical and Biophysical Research Communications
Regular ArticleSix Novel Transcripts That Remove a Huge Intron Ranging from 250 to 800 kb Are Produced by Alternative Splicing of the 5′ Region of the Dystrophin Gene in Human Skeletal Muscle☆
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Cited by (24)
Differential expression of Dp71 and Dp40 isoforms in proliferating and differentiated neural stem cells: Identification of Dp40 splicing variants
2021, Biochemical and Biophysical Research CommunicationsCitation Excerpt :The second ORF starts within exon 68 at position 230 and does not contain the Kozak sequence; however, according to NetStart 1.0 Prediction Tool, this ORF could contain a functional TIS translating 124 amino acids in frame with the Dp40 bearing part of the EF hand type 2 and ZZ domains of dystrophins. AS in the DMD gene has been deeply investigated among different species in several tissues and even at different stages of development, and data obtained from these studies vary depending on the biological sample or the analysis performed [1,27–29]. It has been shown that the AS of Dp71 transcripts impacts the regulation of the expression of splicing variants in different cells and tissues as well as in their subcellular distribution [23,24,30].
Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
2003, FEBS LettersCitation Excerpt :The dystrophin gene undergoes extensive alternative splicing. In particular, tissue-specific transcripts in brain neurons, cardiac Purkinje fibers, and smooth muscle cells [7,8] arise from alternative splicing in the 3′-region, while at least 12 splicing patterns have been described in the 5′-portion of the gene in skeletal muscle [9]. More recently 16 different transcripts have been shown to originate from alternative splicing of the central gene region, some of them displaying tissue specificity [10].
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
2002, Neuromuscular DisordersStructural diversity despite strong evolutionary conservation in the 5′-untranslated region of the P-type dystrophin transcript
2001, Molecular and Cellular NeuroscienceA 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 evolution
2000, Biochemical and Biophysical Research Communications
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DMD, Duchenne muscular dystrophyBMD, Becker muscular dystrophy;
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