title: Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia.
abstract: Neuroblastoma apoptosis-related RNA-binding protein (NAPOR; HGMW-approved symbol CUGBP2) is a newly discovered gene prominently induced during apoptosis, suggesting that it plays a role during apoptosis. We have found that it is encoded by a gene located on chromosome 10p13-p14 between Généthon markers D10S547 and D10S223, a region to which we have recently localized a gene responsible for arrhythmogenic right ventricular dysplasia (ARVD). To examine its possible role in the pathogenesis of ARVD, we determined the genomic organization of the human NAPOR gene including its exon-intron boundaries and the putative promoter sequence, which provide a plausible mechanism for its alternative mRNA splicing. We also demonstrated that three isoforms of the NAPOR transcript were differently expressed, with NAPOR-3 being nearly neuron specific while the other two forms were ubiquitously expressed. The expression of NAPOR is differentially regulated during development. Finally, we screened the members of the ARVD family for mutations and identified two DNA sequence variants in the protein-coding exons of NAPOR, neither of which was responsible for ARVD. While the function of NAPOR remains to be elucidated, our current characterization of the NAPOR gene will be valuable for further clinical and functional study.
authors: Department of Medicine/Cardiology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
authors: D
authors: D
authors: Li
authors: L L
authors: LL
authors: Bachinski
authors: R
authors: R
authors: Roberts
mesh_terms: D017398:Alternative Splicing; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics* / Q000473:pathology; D000067878:CELF Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D005333:Fetus / Q000378:metabolism; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution
chemical_list: D000067878:CELF Proteins; C117363:CELF2 protein, human; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D004247:DNA