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

Cell | Aug 10, 2001

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.

Pubmed ID: 11509181 RIS Download

Mesh terms: Active Transport, Cell Nucleus | Alternative Splicing | Animals | Animals, Newborn | Apoptosis | Base Sequence | Cell Survival | DAX-1 Orphan Nuclear Receptor | DNA-Binding Proteins | Disorders of Sex Development | Exons | Female | Genes, Wilms Tumor | Glomerulosclerosis, Focal Segmental | Gonads | Male | Mice | Mutagenesis | Nephrons | Nuclear Proteins | Protein Isoforms | RNA Splice Sites | RNA, Messenger | Receptors, Retinoic Acid | Repressor Proteins | Sex Determination Processes | Sex-Determining Region Y Protein | Syndrome | Transcription Factors | WT1 Proteins

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Associated grants


Mouse Genome Informatics (Data, Gene Annotation)

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