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WT1

MIM.607102

 

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.

Development

-  splenic organogenesis
-  glomerulogenesis in renal organogenesis

Pathology

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#

-  MIM.194070

WT1 structure

WT1 structure

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