title: Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
abstract: Mutations in OPA1 are the most frequent cause underlying autosomal dominant optic atrophy (adOA). Until now only few putative splicing mutations in the OPA1 gene have been investigated at the mRNA level and all these result in exon skipping. Here, we report the identification and cDNA analysis of four intronic and three exonic OPA1 gene mutations that cause a variety of splicing defects including activation of cryptic splice sites in either flanking exon or intron sequences, and a leaky splicing mutation. Our results show that cDNA analysis is of prime importance for the full evaluation of the effect of putative splicing mutations in the OPA1 gene.
authors.affiliation: Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany. simone.schimpf@uni-tuebingen.de
authors.forename: Simone
authors.initials: S
authors.lastname: Schimpf
authors.forename: Simone
authors.initials: S
authors.lastname: Schaich
authors.forename: Bernd
authors.initials: B
authors.lastname: Wissinger
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis; D005091:Exons; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics*; D014162:Transfection
chemical_list: D022821:RNA Splice Sites; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human