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TY - JOUR AU - Tran, Van Khanh AU - Takeshima, Yasuhiro AU - Zhang, Zhujun AU - Habara, Yasuaki AU - Haginoya, Kazuhiro AU - Nishiyama, Atsushi AU - Yagi, Mariko AU - Matsuo, Masafumi PY - 2007 DA - 2007/01/01 TI - A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient JO - Human Genetics SP - 737 EP - 742 VL - 120 IS - 5 AB - 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. SN - 1432-1203 UR - https://doi.org/10.1007/s00439-006-0241-y DO - 10.1007/s00439-006-0241-y ID - Tran2007 ER -