What is WT1 mutation?

WT1 gene mutations that cause Wilms tumor lead to a WT1 protein with a decreased ability to bind to DNA. As a result, the protein cannot regulate gene activity, leading to uncontrolled growth and division of cells in the kidney and allowing tumor development.

Is WT1 a tumor suppressor?

In human hematopoietic cells, WT1 appears to behave as a tumor suppressor gene as the overexpression of WT1 in early human bone marrow cells leads to growth arrest and reduced colony formation. This effect is due to the zinc fingers, as deletion of this domain abolishes the effect.

What is WT1 and WT2?

In Wilms’ tumours, mutation of the Wilms tumour 1 (WT1) gene at the WT1 locus has been reported, and the WT2 locus, comprising the two independent imprinted domains IGF2/H19 and KIP2/LIT1, can undergo maternal deletion or alterations associated with imprinting.

What WT1 positive?

WT1-positive tumors included tumor of the stomach, prostate, and biliary and urinary systems, and malignant melanomas. A majority of the positive cases showed diffuse or granular staining in the cytoplasm, whereas ovarian tumors and desmoplastic small round cell tumors frequently showed nuclear staining.

What is the function of the WT1 gene?

Recognizes and binds to the DNA sequence 5′-GCG (T/G)GGGCG-3′ (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation.

What kind of tumor is WT1 associated with?

WT1 is a tumor suppressor gene associated with the development of Wilms’ Tumor, from which it was named. Mutations in exon 7 and 9 of WT1 have been recurrently identified in acute myeloid leukemia and associated with poorer prognosis and chemotherapy resistance. WT1 (WT1 Transcription Factor) is a Protein Coding gene.

How is WT1 used as a diagnostic marker?

Immunohistochemically, WT1 is detected in the nucleus of tumor cells of Wilms’ tumor and mesothelioma; therefore, WT1 has traditionally been used as a diagnostic marker for these tumors. 16, 17, 18, 19, 20 Recent reports showed that other types of cancers, such as ovarian serous cancers and rhabdomyosarcomas 17, 19, 20, 21 also express WT1.

What does the WT1 protein do after birth?

After birth, WT1 protein activity is limited to a structure known as the glomerulus, which filters blood through the kidneys. The WT1 protein plays a role in cell growth, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).