Insertional inactivation of the WT1 gene in tumour cells from a patient with WAGR syndrome.
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.
Laboratorio de Genetica Molecular, Faculdade de Ciencias e Tecnologia, Universidade Nova de Lisboa, Monte Caparica, Portugal.
A
A
Santos
L
L
Osorio-Almeida
P N
PN
Baird
J M
JM
Silva
M G
MG
Boavida
J
J
Cowell
D000015:Abnormalities, Multiple / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D004247:DNA; D005260:Female; D017353:Gene Deletion; D016162:Genes, Wilms Tumor; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014407:Tumor Cells, Cultured; D009396:Wilms Tumor / Q000235:genetics*
D004247:DNA