Hum Genet. 2007 Jan;120(5):737-42. Epub 2006 Sep 26.

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

Tran VK, Takeshima Y, Zhang Z, Habara Y, Haginoya K, Nishiyama A, Yagi M, Matsuo M.

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Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe, Japan. matsuo@kobe-u.ac.jp

Abstract

Production of semi-functional dystrophin mRNA from the dystrophin gene encoding a premature stop codon has been shown to modify the severe phenotype of Duchenne muscular dystrophy (DMD). In this study, we report the tissue-specific production of semi-functional dystrophin mRNA via activation of a nonsense mutation-created intraexonic splice acceptor site. In a DMD patient a novel nonsense mutation was identified in exon 42. In his lymphocytes semi-functional dystrophin mRNA with a 63-nucleotide deletion in exon 42 (dys-63) was found to be produced. In vitro splicing assay using hybrid minigenes disclosed that the mutation-created intraexonic splice acceptor site was activated. In his skeletal muscle cells, however, only the authentically spliced dystrophin mRNA was found. This finding identifies the modulation of the splicing of muscle dystrophin mRNA in cases of DMD as a potential target for therapeutic strategies to generate a milder phenotype for this disease.

PMID:: 17024373; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. [Nat Commun. 2011]
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Genomic features defining exonic variants that modulate splicing. [Genome Biol. 2010]
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Woolfe A, Mullikin JC, Elnitski L. Genome Biol. 2010; 11(2):R20. Epub 2010 Feb 16.
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. [Nucleic Acids Res. 2009]
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Nucleic Acids Res. 2009 May; 37(9):e67. Epub 2009 Apr 1.

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