The Wilms tumour gene, WT1, in normal and abnormal nephrogenesis

Pediatric Nephrology

Volumn 13, Issue 7, 1999, Pages 620-625

  Pritchard Jones, Kathryn ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Denys Drash syndrome; Diffuse mesangial sclerosis; Frasier syndrome; Nephrogenic rests; Nephrotic syndrome

Indexed keywords

ARTICLE; CANCER GENETICS; DISEASE SEVERITY; GENE; GENE MUTATION; GENOTYPE; GLOMERULOSCLEROSIS; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DISEASE; KIDNEY MALFORMATION; MESANGIUM; MISSENSE MUTATION; MOLECULAR GENETICS; NEPHROBLASTOMA; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032780820     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050757     Document Type: Article

References (37)

1. Knudson AG, Strong LC (1972) Mutation and cancer: a model for Wilms tumour of the kidney. J Natl Cancer Inst 48:313-324
2. Pritchard-Jones K (1997) Molecular genetic pathways to Wilms tumor. Crit Rev Oncog 8:1-27
3. Pritchard-Jones K, Hawkins M (1997) Biology of Wilms tumour. Lancet 349:663-664
4. Armstrong JF, Pritchard JK, Bickmore WA, Hastie ND, Bard JB (1993) The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo. Mech Dev 40:85-97
5. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R (1993) WT-1 is required for early kidney development. Cell 74:679-691
6. Sainio K, Hellstedt P, Kreidberg JA, Saxen L, Sariola H (1997) Differential regulation of two sets of mesonephric tubules by WT1. Development 124:1293-1299
7. Siegel JF, Delakas D, Rai S, Kushner L (1996) Unilateral nephrectomy induces the expression of the Wilms tumour gene in the contralateral kidney of the adult rat. J Urol 156:688-692
8. Hastie ND (1994) The genetics of Wilms' tumor - a case of disrupted development. Annu Rev Genet 28:523-558
9. Nakagama H, Heinrich G, Pelletier J, Housman DE (1995) Sequence and structural requirements for high-affinity DNA binding by the WT1 gene product. Mol Cell Biol 15:1489-1498
10. Larsson SH, Charlieu JP, Miyagawa K, Engelkamp D, Rassoulzadegan M, Ross A, Cuzin F, Heyningen V van, Hastie ND (1995) Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81:391-401
11. Bardeesy N, Pelletier J (1998) Overlapping RNA and DNA binding domains of the wt1 tumor suppressor gene product. Nucleic Acids Res 26:1784-1792
12. Renshaw J, King-Underwood L, Pritchard-Jones K (1997) Differential splicing of exon 5 of the Wilms tumour (WT1) gene. Genes Chromosom Cancer 19:256-266
13. Chevalier G, Yeger H, Martinerie C, Laurent M, Alami J, Schofield PN, Perbal B (1998) novH: differential expression in developing kidney and Wilm's tumors. Am J Pathol 152:1563-1575
14. Johnstone RW, See RH, Sells SF, Wang J, Muthukkumar S, Englert C, Haber DA, Licht JD, Sugrue SP, Roberts T, Rangnekar VM, Shi Y (1996) A novel repressor, par-4, modulates transcription and growth suppression functions of the Wilms' tumor suppressor WT1. Mol Cell Biol 16:6945-6956
15. Johnstone R W, Wang J, Tommerup N, Vissing H, Roberts T, Shi Y (1998) Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1. J Biol Chem 273:10880-10887
16. Maheswaran S, Englert C, Zheng G, Lee SB, Wong J, Harkin DP, Bean J, Ezzell R, Garvin AJ, McCluskey RT, DeCaprio JA, Haber DA ( 1998) Inhibition of cellular proliferation by the Wilms tumor suppressor WT1 requires association with the inducible chaperone Hsp70. Genes Dev 12:1108-1120
17. Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, Flanagan JN, Hammer GD, Ingraham HA (1998) Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 93:445-454
18. Borel F, Barilla KC, Hamilton TB, Iskandar M, Romaniuk PJ (1996) Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1. Biochemistry 35:12070-12076
19. Little M, Wells C (1997) A clinical overview of Wt1 gene mutations. Hum Mutat 9:209-225
20. Schumacher V, Schneider S, Figge A, Wildhardt G, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B (1997) Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci USA 94:3972-3977
21. Little MH, Williamson KA, Mannens M, Kelsey A, Gosden C, Hastie ND, Heyningen V van (1993) Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum Mol Genet 2:259-264
22. Kaplinsky CM, Ghahremani Y, Frishberg G, Rechavi, Pelletier J (1996) Familial Wilms tumor associated with a WT1 zinc finger mutation. Genomics 38:541-453
23. Beckwith JB, Kiviat NB, Bonadio JF (1990) Nephrogenic rests, nephroblastomatosis and the pathogenesis of Wilms tumour. Pediatr Pathol 10:1-36
24. Park S, Bernard A, Bove KE, Sens DA, Hazen MD, Garvin AJ, Haber DA (1993) Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour. Nat Genet 5:363-367
25. Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, Heyningen V van (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am J Hum Genet 51:1286-1294
26. Jadresic J, Wadey RB, Buckle B, Barratt TM, Mitchell CD, Cowell JK (1991) Molecular analysis of chromosome region 11p13 in patients with Drash syndrome. Hum Genet 86:497-501
27. Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M (1985) The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion - report of 10 cases. Clin Nephrol 24:269-278
28. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447
29. Englert C, Vidal M, Maheswaran S, Ge Y, Ezzell RM, Isselbacher KJ, Haber DA (1995) Truncated WT1 mutants alter the subnuclear localization of the wild-type protein. Proc Natl Acad Sci USA 92:11960-11964
30. Bruening W, Bardeesy N (1992) Germline intronic and exonic mutations in the Wilms tumour gene (WT1) affecting urogenital development. Nat Genet 1:144-148
31. Moorthy AV, Chesney RW, Lubinsky M (1987) Chronic renal failure and XY gonadal dysgenesis: 'Frasier' syndrome - a commentary on reported cases. Am J Med Genet 3:297-302
32. Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-470
33. Heyningen V van (1997) Sugar and spice and all things splice? Nat Genet 17:367-368
34. Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J (1998) Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35: 45-48
35. Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 7:709-714
36. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833
37. Schumacher V, Schärer K, Wuhl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Broking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B (1998) Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 53:1594-1600