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PMID:11509181
| Citation |
Hammes, A, Guo, JK, Lutsch, G, Leheste, JR, Landrock, D, Ziegler, U, Gubler, MC and Schedl, A (2001) Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 106:319-29 |
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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 Sry in the sex determination pathway. |
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| Keywords |
Active Transport, Cell Nucleus; Alternative Splicing/genetics; Animals; Animals, Newborn; Apoptosis; Base Sequence; Cell Survival; DAX-1 Orphan Nuclear Receptor; DNA-Binding Proteins/chemistry; DNA-Binding Proteins/genetics; DNA-Binding Proteins/metabolism; Disorders of Sex Development; Exons/genetics; Female; Genes, Wilms Tumor/genetics; Glomerulosclerosis, Focal Segmental/genetics; Glomerulosclerosis, Focal Segmental/metabolism; Gonads/abnormalities; Gonads/embryology; Gonads/metabolism; Gonads/pathology; Male; Mice; Mutagenesis/genetics; Nephrons/abnormalities; Nephrons/embryology; Nephrons/metabolism; Nephrons/ultrastructure; Nuclear Proteins; Protein Isoforms/chemistry; Protein Isoforms/genetics; Protein Isoforms/metabolism; RNA Splice Sites/genetics; RNA, Messenger/genetics; RNA, Messenger/metabolism; Receptors, Retinoic Acid/genetics; Repressor Proteins; Sex Determination Processes; Sex-Determining Region Y Protein; Syndrome; Transcription Factors/chemistry; Transcription Factors/genetics; Transcription Factors/metabolism; WT1 Proteins |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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