title: Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.
abstract: The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), comprises 79 exons that show multiple alternative splicing events. Intron retention, a type of alternative splicing, may control gene expression. We examined intron retention in dystrophin introns by reverse-transcription PCR from skeletal muscle, focusing on the nine shortest (all <1000 bp), because these are more likely to be retained. Only one, intron 40, was retained in mRNA; sequencing revealed insertion of a complete intron 40 (851 nt) between exons 40 and 41. The intron 40 retention product accounted for 1.2% of the total product but had a premature stop codon at the fifth intronic codon. Intron 40 retention was most strongly observed in the kidney (36.6%) and was not obtained from the fetal liver, lung, spleen or placenta. This indicated that intron retention is a tissue-specific event whose level varies among tissues. In two DMD patients, intron 40 retention was observed in one patient but not in the other. Examination of splicing regulatory factors revealed that intron 40 had the highest guanine-cytosine content of all examined introns in a 30-nt segment at its 3' end. Further studies are needed to clarify the biological role of intron 40-retained dystrophin mRNA.
authors.affiliation: Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nishida
authors.affiliation: Department of Clinical Pharmacy, Kobe Pharmaceutical University, Kobe, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Minegishi
authors.affiliation: Department of Clinical Pharmacy, Kobe Pharmaceutical University, Kobe, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Takeuchi
authors.affiliation: Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.
authors.forename: Emma Tabe Eko
authors.initials: ET
authors.lastname: Niba
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Awano
authors.affiliation: Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.affiliation: Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.affiliation: Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Kobe, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D001482:Base Composition; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007438:Introns; D007668:Kidney / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics; D009928:Organ Specificity; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D016189:Dystrophin; D020033:Protein Isoforms; D012333:RNA, Messenger
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