title: Inactivation of the remaining allele of the WT1 gene in a Wilms' tumour from a WAGR patient.
abstract: A candidate gene (WT1) has recently been described for the 11p13 tumour-suppressor gene involved in the development of Wilms' tumour. This gene encodes a zinc finger protein which can bind to a specific DNA sequence. We have found a 226 base deletion in the mRNA from a unilateral Wilms' tumour, which would cause a frameshift that completely deletes the zinc finger domain. The tumour developed in a patient suffering from the WAGR syndrome, who had a constitutional 11p13 deletion, and so the 226 base deletion represents the inactivation of the remaining WT1 allele in the tumour. This provides further direct evidence that loss of function of WT1 is an essential step in the development of Wilms' tumour.
authors.affiliation: Department of Pathology and Microbiology, School of Medical Sciences, University Walk, Bristol, UK.
authors.forename: K W
authors.initials: KW
authors.lastname: Brown
authors.forename: J E
authors.initials: JE
authors.lastname: Watson
authors.forename: V
authors.initials: V
authors.lastname: Poirier
authors.forename: M G
authors.initials: MG
authors.lastname: Mott
authors.forename: P J
authors.initials: PJ
authors.lastname: Berry
authors.forename: N J
authors.initials: NJ
authors.lastname: Maitland
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D016133:Polymerase Chain Reaction; D012334:RNA, Neoplasm / Q000235:genetics; D013577:Syndrome; D014564:Urogenital Abnormalities; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000235:genetics*; D016335:Zinc Fingers
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D009838:Oligodeoxyribonucleotides; D012334:RNA, Neoplasm; D025721:WT1 Proteins