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Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation

Lookup NU author(s): Dr Jiankan Guo, Professor Andreas Schedl

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Abstract

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 Sty in the sex determination pathway.

Publication metadata

Author(s): Guo JK; Schedl A; Hammes A; Lutsch G; Leheste JR; Landrock D; Ziegler U; Gubler MC

Publication type: Article

Publication status: Published

Journal: Cell

Year: 2001

Volume: 106

Issue: 3

Pages: 319-329

ISSN (print): 0092-8674

ISSN (electronic): 1097-4172

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/S0092-8674(01)00453-6

DOI: 10.1016/S0092-8674(01)00453-6

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