The WT1 gene encodes a zinc finger DNA-binding protein that acts as a transcriptional activator or repressor depending on the cellular or chromosomal context. WT1 is required for normal formation of the genitourinary system and mesothelial tissues.
The WT1 protein is a transcriptional activator of genes involved in renal and gonadal differentiation. It regulates the mesenchymal to epithelial transition that occurs in kidney development.
splenic organogenesis
glomerulogenesis in renal organogenesis
The WT1 gene, located on chromosome 11p13, is associated with the development of Wilms tumor, a pediatric kidney cancer. Both inherited and sporadic forms of Wilms tumor occur, and mutational inactivation of the WT-1 locus has been seen in both forms. Although not precisely known, it is likely that the tumorigenic effect of WT-1 deficiency is intimately connected with the role of the gene in the differentiation of genitourinary tissues.
muations in malformative syndromes
constitutional mutations in the familial Wilms tumor
constitutional WT1 mutations in nonsyndromic Wilms tumor patients (2.1%) (#15483024#)
constitutional mutations in mesangial sclerosis
constitutional mutations in primary steroid-resistant focal and segmental glomerulosclerosis
mutations in sporadic tumors
Immunochemistry
WT1 expression in angiogenic tumours of the skin. (#15982325#)
References
Little SE, Hanks SP, King-Underwood L, Jones C, Rapley EA, Rahman N, Pritchard-Jones K. Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. J Clin Oncol. 2004 Oct 15;22(20):4140-6. PMID: #15483024#
Roberts SG. Transcriptional regulation by WT1 in development. Curr Opin Genet Dev. 2005 Oct;15(5):542-7. PMID: #16099645#
Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V. Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development. Am J Med Genet. 2004 Jun 15;127A(3):249-57. PMID: #15150775#