title: Splicing of exon 5 in the WT1 gene is disrupted in Wilms' tumour.
abstract: Using a reverse transcriptase polymerase chain reaction to examine alternate splicing at site I (exon 5) and site II (exon 9) in the Wilms' tumour suppressor gene, WT1, we found that in seven of the 10 Wilms' tumours examined, splicing at site I was disrupted. This is predicted to result in isoform imbalance in Wilms' tumours, with an increase in isoforms in which the 17 amino acids encoded by exon 5 are missing. These observations could not be explained by mutations or rearrangements in flanking introns. Disrupted alternate splicing of exon 5 may play a role in the aetiology of Wilms' tumour.
authors.affiliation: Department of Pathology, University of Queensland Medical School, Brisbane, Australia.
authors.forename: L A
authors.initials: LA
authors.lastname: Simms
authors.forename: E M
authors.initials: EM
authors.lastname: Algar
authors.forename: P J
authors.initials: PJ
authors.lastname: Smith
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D005091:Exons / Q000235:genetics* / Q000502:physiology; D016162:Genes, Wilms Tumor / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics* / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D012334:RNA, Neoplasm