| First Author | Hammes A | Year | 2001 |
| Journal | Cell | Volume | 106 |
| Issue | 3 | Pages | 319-29 |
| PubMed ID | 11509181 | Mgi Jnum | J:71149 |
| Mgi Id | MGI:2149238 | Doi | 10.1016/s0092-8674(01)00453-6 |
| Citation | Hammes A, et al. (2001) Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 106(3):319-29 |
| abstractText | Alternative splicing of Wt1 results in the insertion or omission of the three amino acids KTS between zinc fingers 3 and 4. In vitro experiments suggest distinct molecular functions for + and -KTS isoforms. We have generated mouse strains in which specific isoforms have been removed. Heterozygous mice with a reduction of +KTS levels develop glomerulosclerosis and represent a model for Frasier syndrome. Homozygous mutants of both strains die after birth due to kidney defects. Strikingly, mice lacking +KTS isoforms show a complete XY sex reversal due to a dramatic reduction of Sry expression levels. Our data demonstrate distinct functions for the two splice variants and place the +KTS variants as important regulators for Sry in the sex determination pathway. |
