title: Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.
abstract: CFTR transcripts have been qualitatively and quantitatively analysed in nasal epithelial and vas deferens cells by means of reverse transcription PCR. Alternative splicing of exon 9, which is known to occur in nasal epithelial cells, also occurred in vas deferens cells. The extent of this alternative splicing was determined by the allele present at the Tn locus at the end of intron 8 of the CFTR gene. However, the proportion of transcripts lacking exon 9 sequences was increased in vas deferens cells compared with nasal epithelial cells, independent of the Tn genotype. We postulate that this tissue specific difference in the proportion of CFTR transcripts lacking exon 9 sequences could contribute to the tissue specific disease phenotype observed in individuals with congenital bilateral absence of the vas deferens.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Teng
authors.forename: M
authors.initials: M
authors.lastname: Jorissen
authors.forename: H
authors.initials: H
authors.lastname: Van Poppel
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: H
authors.initials: H
authors.lastname: Cuppens
mesh_terms: D017398:Alternative Splicing; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004847:Epithelial Cells; D005091:Exons; D006801:Humans; D008297:Male; D009297:Nasal Mucosa / Q000378:metabolism*; D009666:Nose / Q000166:cytology; D012313:RNA; D014649:Vas Deferens / Q000166:cytology / Q000378:metabolism*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012313:RNA