The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human denys-drash syndrome

Molecular and Cellular Biology

Volumn 24, Issue 22, 2004, Pages 9899-9910

  Gao, Fei ^a   Maiti, Sourindra ^a   Sun, Guizhi ^a   Ordonez, Nelson G ^a   Udtha, Malini ^a   Jian, Min Deng ^a   Behringer, Richard R ^a   Huff, Vicki ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD2 ANTIGEN; NEPHRIN; PODOCALYXIN; PODOCIN; SOMATOMEDIN C; TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA1; WT1 PROTEIN;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DENYS DRASH SYNDROME; DISEASE COURSE; DISEASE PREDISPOSITION; DOWN REGULATION; ELECTRON MICROSCOPY; FEMALE; GENE EXPRESSION; GLOMERULOSCLEROSIS; HETEROZYGOTE; IMMUNOHISTOCHEMISTRY; KIDNEY DEVELOPMENT; KIDNEY FAILURE; MALE; MISSENSE MUTATION; MOUSE; MOUSE STRAIN; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEINURIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UPREGULATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BASE SEQUENCE; CELL DIVISION; CYTOSKELETAL PROTEINS; DENYS-DRASH SYNDROME; DISEASE MODELS, ANIMAL; DNA; FEMALE; GENE EXPRESSION; GENES, WILMS TUMOR; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY FAILURE; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON; PHENOTYPE; POINT MUTATION; PROTEINS; SPECIES SPECIFICITY;

ANIMALIA; MAMMALIA;

EID: 7644239147     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.24.22.9899-9910.2004     Document Type: Article

References (45)

1. Armstrong, J. F., K. Pritchard-Jones, W. A. Bichmore, N. D. Hastie, and J. B. Bard. 1993. The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo. Mech. Dev. 40:85-97.
2. Boute, N., O. Gribouval, S. Roselli, F. Benessy, H. Lee, A. Fuchshuber, K. Dahan, M.-C. Gubler, P. Niaudet, and C. Antignac. 2000. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24:349-354.
3. Bruening, W., N. Bardeesy, B. L. Silverman, R. A. Cohn, G. A. Machin, A. J. Aronson, D. Housman, and J. Pelletier. 1992. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nat. Genet. 1:144-148.
4. Bruijn, J. A., A. Roos, B. de Geus, and E. de Heer. 1994. Transforming growth factor-beta and the glomerular extracellular matrix in renal pathology. J. Lab. Clin. Med. 123:34-47.
5. Call, K. M., T. Glaser, C. Y. Ito, A. J. Buckler, J. Pelletier, D. A. Haber, E. A. Rose, A. Kral, H. Yeger, W. H. Lewis, C. Jones, and D. E. Housman. 1990. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520.
6. Chan, W., M. Wang, R. J. Martin, H. Trachtman, S. Hisano, and J. C. Chan. 2001. mRNA expression for insulin-like growth factor 1, receptors of growth hormone and IGF1 and transforming growth factor-beta in the kidney and liver of Zucker rats. Nutr. Res. 21:1015-1023.
7. Coppes, M. J., G. J. Liefers, M. Higuchi, A. B. Zinn, J. W. Balfe, and B. R. Williams. 1992. Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res. 52:6125-6128.
8. Doi, S. Q., S. Rasaiah, I. Tack, J. Mysore, J. J. Kopchick, J. Moore, P. Hirszel, L. J. Striker, and G. E. Striker. 2001. Low-protein diet suppresses serum insulin-like growth factor-1 and decelerates the progression of growth hormone-induced glomerulosclerosis. Am. J. Nephrol. 21:331-339.
9. Doyonnas R., D. B. Kershaw, C. Duhme, H. Merkens, S. Chelliah, T. Graf, and K. M. McNagny. 2001. Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin. J. Exp. Med. 194:13-27.
10. Drash, A., F. Sherman, W. H. Hartmann, and R. M. Blizzard. 1970. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J. Pediatr. 76:585-593.
11. Gessler, M., A. Proustka, W. Cavenee, R. L. Neve, S. H. Orkin, and G. A. Bruns. 1990. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 343:774-778.
12. Guo, J., A. L. Menke, M.-C. Gubler, A. R. Clarke, D. Harrison, A. Hammes, N. D. Hastie, and A. Schedl. 2002. WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum. Mol. Genet. 11:651-659.
13. Hall, B. V. 1995. Further studies of the normal structure of the renal glomerulus, p. 1-39. In J. Metcoff (ed.), Proceedings of the Sixth Annual Conference on Nephrotic Syndrome. National Kidney Foundation, New York, N.Y.
14. Hannedouche, T., P. Chauveau, F. Kalou, G. Albouze, B. Lacour, and P. Jungers. 1993, Factors affecting progression in advanced chronic renal failure. Clin. Nephrol. 39:312.
15. Herzer, U., A. Crocoll, D. Barton, N. Howells, and C. Englert. 1999. The Wilms tumor suppressor gene wt1 is required for development of the spleen. Curr. Biol. 9:837-840.
16. Hossain, A., and G. F. Saunders. 2001. The human sex-determining gene SRY is a direct target of WT1. J. Biol. Chem. 276:16817-16823.
17. Huff, V. 1996. Genotype/phenotype correlations in Wilms' tumor. Med. Pediatr. Oncol. 27:408-414.
18. Huff, V., F. Villalba, V. M. Riccardi, L. C. Strong, and G. F. Saunders. 1991. Alteration of the WT1 gene in patients with Wilms' tumor and genitourinary anomalies. Am. J. Hum. Genet. 29:44.
19. Isaka, Y., Y. Fujiwara, N. Ueda, Y. Kaneda, T. Kamada, and E. Imai. 1993. Glomerulosclerosis induced by in vivo transfection of transforming growth factor-beta or platelet-derived growth factor gene into the rat kidney. J. Clin. Investig. 92:2597-2601.
20. 1 mRNA in patients with diabetes mellitus. Kidney Int. 49:1120-1126.
21. Kaplan, J. M., S. H. Kim, K. N. North, H. Rennke, L. A. Correia, H.-Q. Tong, B. J. Mathis, J.-C. Rodriguez-Perez, P. G. Allen, A. H. Beggs, and M. R. Pollak. 2000. Mutations in ACTN4, encoding oc-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24:251-256.
22. Kestila, M., U. Lenkkeri, M. Mannikko, J. Lamerdin, P. McCready, H. Putaala, V. Ruotsalainen, T. Morita, M. Nissinen, R. Herva, C. E. Kashtan, L. Peltonen, C. Holmberg, A. Olsen, and K. Tryggvason. 1998. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell 1:575-582.
23. Kim, J. M., H. Wu, G. Green, C. A. Winkler, J. B. Kopp, J. H. Miner, E. R. Unanue, and A. S. Shaw. 2003. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300:1298-1300.
24. Kreidberg, J. A., H. Sariola, J. M. Loring, M. Maeda, J. Pelletier, D. Housman, and R. Jaenisch. 1993. WT-1 is required for early kidney development. Cell 74:679-691.
25. Lupia, E., S. J. Elliot, O. Lenz, F. Zheng, M. Hattori, G. E. Striker, and L. J. Striker. 1999. IGF-1 decreases collagen degradation in diabetic NOD mesangial cells: implications for diabetic nephropathy. Diabetes 48:1638-1644.
26. Mansour, S. L., K. R. Thomas, and M. R. Capecchi. 1988. Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes. Nature 336:348-352.
27. McMahon, A. P., and A. Bradley. 1990. The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain. Cell 62:1073-1085.
28. Menke, A. L., A. Ijpenberg, S. Fleming, A. Ross, C. N. Medine, C. E. Patek, L. Spraggon, J. Hughes, A. R. Clarke, and N. D. Hastie. 2003. The Wt1-heterozygous mouse; a model to study the development of glomerular sclerosis. J. Pathol. 200:667-674.
29. Nachtigal, M. W., Y. Hirokawa, D. L. Enyeart-VanHouten, J. N. Flanagan, G. D. Hammer, and H. A. Ingraham. 1998. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 93:445-454.
30. Palmer, R. E., A. Kotsianti, B. Cadman, T. Boyd, W. Gerald, and D. Haber. 2001. WT1 regulates the expression of the major glomerular podocyte membrane protein podocalyxin. Curr. Biol. 11:1805-1809.
31. Pelletier J., W. Bruening, F. P. Li, D. A. Haber, T. Glaser, and D. E. Housman. 1991. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 353:431-434.
32. Pelletier, J., W. Bruening, C. E. Kashtan, S. M. Mauer, J. C. Manivel, J. E. Striegel, D. C. Houghton, C. Junien, R. Habib, L. Fouser, R. N. Fine, B. L. Silverman, D. A. Haber, and D. E. Housman. 1991. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447.
33. Pritchard-Jones, K., S. Fleming, D. Davidson, W. Bichmore, D. Porteous, C. Gosden, J. Bard, A. Buckler, J. Pelletier, D. Housman, V. V. Heyningen, and N. Hastie. 1990. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346:194-197.
34. Putaala, H., R. Soininen, P. Kilpelainen, J. Wartiovaara, and K. Tryggvason. 2001. The murine nephrin gene is specifically expressed in kidney, brain, and pancrease: inactivation of the gene leads to massive proteinuria and neonatal death. Hum. Mol. Genet. 10:1-8.
35. Rantanen, M., T. Palmen, A. Patari, H. Ahola, S. Lehtonen, E. Astrom, T. Floss, F. Vauti, W. Wurst, P. Ruiz, D. Kerjaschki, and H. Holthofer. 2002. Nephrin TRAP mice lack slit diaphragms and show fibrotic glomeruli and cystic tubular lesions. J. Am. Soc. Nephrol. 13:1586-1594.
36. Rees, L., and H. Maxwell. 1996. The hypothalamo-pituitary-growth hormone insulin-like growth factor 1 axis in children with chronic renal failure. Kidney Int. Suppl. 53:8109-8114.
37. Roselli, S., L. Heidet, M. Sich, A. Henger, M. Kretzler, M.-C. Gubler, and C. Antignac. 2004. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol. Cell. Biol. 24:550-560.
38. Schocklmann, H. O., S. Lang, and R. B. Sterzel. 1999. Regulation of mesangial cell proliferation. Kidney Int. 56:1199-1207.
39. Sharma, K., and F. N. Ziyadeh. 1994. The emerging role of transforming growth factor-beta in kidney diseases. Am. J. Physiol. 266:F829-F842.
40. Shih, N. Y., J. Li, V. Karpitskii, A. Nguyen, M. L. Dustin, O. Kanagawa, J. H. Miner, and A. S. Shaw. 1999. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286:312-315.
41. Soriano, P., C. Montgomery, R. Geske, and A. Bradley. 1991. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 64:693-702.
42. Takeda, T., T. McQuistan, R. A. Orlando, and M. G. Farquhar. 2001. Loss of glomerular foot processes is associated with uncoupling of podocalyxin from the actin cytoskeleton. J. Clin. Investig. 108:289-301.
43. Udtha, M., S.-J. Lee, R. Alam, K. Coombes, and V. Huff. 2003. Upregulation of c-MYC in WT1-mutant tumors: assessment of WT1 putative transcriptional targets in Wilms tumors using cDNA microarray expression profiling of genetically defined tumors. Oncogene 22:3821-3838.
44. Yamamoto, T., N. A. Noble, A. H. Cohen, C. C. Nasi, A. Hishida, L. I. Gold, and W. A. Border. 1996. Expression of transforming growth factor-beta isoforms in human glomerular diseases. Kidney Int. 49:461-469.
45. Yu, L., W. A. Border, Y. Huang, and N. A. Noble. 2003. TGF-β isoforms in renal fibrogenesis. Kidney Int. 64:844-856.