Wilms' tumour: connecting tumorigenesis and organ development in the kidney (original) (raw)

• Bennington, J. & Beckwith, J. Tumors of the kidney, renal pelvis and ureter (Armed Forces Institute of Pathology, Washington DC, 1975).
  Google Scholar
• Green, D. et al. in Principles and Practice of Pediatric Oncology (eds Pizzo, P. & Poplack, D.) 733–759 (Lippincott-Raven, Philadelphia, 1997).
  Google Scholar
• Haber, D. in The Genetic Basis of Human Cancer (ed. Vogelstein, B.) 403–415 (McGraw Hill, New York, 1998).
  Google Scholar
• Miller, R. W., Young, J. L. Jr & Novakovic, B. Childhood cancer. Cancer 75, 395–405 (1995).
  CAS PubMed Google Scholar
• Wilms' tumor: status report, 1990. By the National Wilms' Tumor Study Committee. Wilms' tumor: status report, 1990. J. Clin. Oncol. 9, 877–887 (1991).
• Knudson, A. G. Jr & Strong, L. C. Mutation and cancer: a model for Wilms' tumor of the kidney. J. Natl Cancer Inst. 48, 313–324 (1972). Knudson's classic study of the epidemiology of Wilms' tumour.
  PubMed Google Scholar
• Dome, J. S. & Coppes, M. J. Recent advances in Wilms tumor genetics. Curr. Opin. Pediatr. 14, 5–11 (2002).
  PubMed Google Scholar
• Ogawa, O. et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362, 749–751 (1993). This study and reference 9 demonstrated LOI of IGF2 in Wilms' tumour.
  CAS PubMed Google Scholar
• Rainier, S. et al. Relaxation of imprinted genes in human cancer. Nature 362, 747–749 (1993).
  CAS PubMed Google Scholar
• Beckwith, J. B., Kiviat, N. B. & Bonadio, J. F. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor. Pediatr. Pathol. 10, 1–36 (1990).
  CAS PubMed Google Scholar
• Call, K. M. et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60, 509–520 (1990).
  CAS PubMed Google Scholar
• Gessler, M. et al. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 343, 774–778 (1990).
  CAS PubMed Google Scholar
• Haber, D. A. et al. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell 61, 1257–1269 (1990).
  CAS PubMed Google Scholar
• Bonetta, L. et al. Wilms tumor locus on 11p13 defined by multiple CpG island-associated transcripts. Science 250, 994–997 (1990).
  CAS PubMed Google Scholar
• Huang, A. et al. Tissue, developmental, and tumor-specific expression of divergent transcripts in Wilms tumor. Science 250, 991–994 (1990). This study and references 11–14 identified WT1 as a candidate tumour-suppressor gene for Wilms' tumour.
  CAS PubMed Google Scholar
• Pelletier, J. et al. Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev. 5, 1345–1356 (1991).
  CAS PubMed Google Scholar
• Pritchard-Jones, K. et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346, 194–197 (1990). Described the highly regulated expression pattern of WT1 in the kidney, supporting the role of this gene as a tumour suppressor in Wilms' tumour.
  CAS PubMed Google Scholar
• Kreidberg, J. A. et al. WT-1 is required for early kidney development. Cell 74, 679–691 (1993). Described embryonic lethality and absence of kidneys and gonads in Wt1 -knockout mice.
  CAS PubMed Google Scholar
• Miller, R. W., Fraumeni, J. F. Jr & Manning, M. D. Association of Wilms's tumor with aniridia, hemihypertrophy and other congenital malformations. N. Engl. J. Med. 270, 922–927 (1964).
  CAS PubMed Google Scholar
• Pelletier, J. et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys–Drash syndrome. Cell 67, 437–447 (1991). WT1 point mutations were identified in Denys–Drash syndrome.
  CAS PubMed Google Scholar
• Barbaux, S. et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nature Genet. 17, 467–470 (1997). WT1 splice-site mutations were detected in Frasier syndrome.
  CAS PubMed Google Scholar
• Klamt, B. et al. 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 (1998).
  CAS PubMed Google Scholar
• Koesters, R. et al. Mutational activation of the β-catenin proto-oncogene is a common event in the development of Wilms' tumors. Cancer Res. 59, 3880–3882 (1999). Identified β-catenin-activating mutations in Wilms' tumour.
  CAS PubMed Google Scholar
• Maiti, S., Alam, R., Amos, C. I. & Huff, V. Frequent association of β-catenin and WT1 mutations in Wilms tumors. Cancer Res. 60, 6288–6292 (2000). Established that WT1 and β-catenin mutations often occur in the same Wilms' tumours.
  CAS PubMed Google Scholar
• Pilia, G. et al. Mutations in GPC3, a glypican gene, cause the Simpson–Golabi–Behmel overgrowth syndrome. Nature Genet. 12, 241–247 (1996).
  CAS PubMed Google Scholar
• Zhuang, Z. et al. Identical genetic changes in different histologic components of Wilms' tumors. J. Natl Cancer Inst. 89, 1148–1152 (1997).
  CAS PubMed Google Scholar
• Park, S. et al. Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour. Nature Genet. 5, 363–367 (1993). WT1 mutations were shown to be present in nephrogenic rests and in adjacent Wilms' tumours.
  CAS PubMed Google Scholar
• Charles, A. K., Brown, K. W. & Berry, P. J. Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development. Am. J. Pathol. 153, 991–1000 (1998).
  CAS PubMed PubMed Central Google Scholar
• Guertl, B. et al. Clonality and loss of heterozygosity of WT genes are early events in the pathogenesis of nephroblastomas. Hum. Pathol. 34, 278–281 (2003).
  CAS PubMed Google Scholar
• Li, C. M. et al. Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition. Am. J. Pathol. 160, 2181–2190 (2002).
  CAS PubMed PubMed Central Google Scholar
• Li, W., Kessler, P. & Williams, B. R. Transcript profiling of Wilms tumors reveals connections to kidney morphogenesis and expression patterns associated with anaplasia. Oncogene 24, 457–468 (2005).
  CAS PubMed Google Scholar
• Moon, R. T., Kohn, A. D., De Ferrari, G. V. & Kaykas, A. WNT and β-catenin signalling: diseases and therapies. Nature Rev. Genet. 5, 691–701 (2004).
  CAS PubMed Google Scholar
• Kispert, A., Vainio, S. & McMahon, A. P. Wnt-4 is a mesenchymal signal for epithelial transformation of metanephric mesenchyme in the developing kidney. Development 125, 4225–4234 (1998).
  CAS PubMed Google Scholar
• Grisaru, S., Cano-Gauci, D., Tee, J., Filmus, J. & Rosenblum, N. D. Glypican-3 modulates BMP- and FGF-mediated effects during renal branching morphogenesis. Dev. Biol. 231, 31–46 (2001).
  CAS PubMed Google Scholar
• Knudson, A. G. Jr. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA 68, 820–823 (1971).
  PubMed PubMed Central Google Scholar
• Knudson, A. G. Jr & Strong, L. C. Mutation and cancer: neuroblastoma and pheochromocytoma. Am. J. Hum. Genet. 24, 514–532 (1972).
  PubMed PubMed Central Google Scholar
• Pelletier, J. et al. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 353, 431–434 (1991).
  CAS PubMed Google Scholar
• Rahman, N. et al. Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nature Genet. 13, 461–463 (1996).
  CAS PubMed Google Scholar
• McDonald, J. M. et al. Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res. 58, 1387–1390 (1998).
  CAS PubMed Google Scholar
• Wiedemann, H. Tumor and hemihypertrophy associated with Wiedemann–Beckwith syndrome. Eur. J. Pediatr. 141, 129 (1983).
  Google Scholar
• Ohlsson, R. et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome. Nature Genet. 4, 94–97 (1993).
  CAS PubMed Google Scholar
• Weksberg, R., Shen, D. R., Fei, Y. L., Song, Q. L. & Squire, J. Disruption of insulin-like growth factor 2 imprinting in Beckwith–Wiedemann syndrome. Nature Genet. 5, 143–150 (1993).
  CAS PubMed Google Scholar
• Hatada, I. et al. An imprinted gene p57 KIP2 is mutated in Beckwith–Wiedemann syndrome. Nature Genet. 14, 171–173 (1996).
  CAS PubMed Google Scholar
• Gessler, M. et al. Infrequent mutation of the WT1 gene in 77 Wilms' Tumors. Hum. Mutat. 3, 212–222 (1994).
  CAS PubMed Google Scholar
• Varanasi, R. et al. Fine structure analysis of the WT1 gene in sporadic Wilms tumors. Proc. Natl Acad. Sci. USA 91, 3554–3558 (1994).
  CAS PubMed PubMed Central Google Scholar
• Ravenel, J. D. et al. Loss of imprinting of insulin-like growth factor-II (IGF2) gene in distinguishing specific biologic subtypes of Wilms tumor. J. Natl Cancer Inst. 93, 1698–1703 (2001).
  CAS PubMed Google Scholar
• Bardeesy, N. et al. Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. Nature Genet. 7, 91–97 (1994).
  CAS PubMed Google Scholar
• Bardeesy, N., Beckwith, J. B. & Pelletier, J. Clonal expansion and attenuated apoptosis in Wilms' tumors are associated with p53 gene mutations. Cancer Res. 55, 215–219 (1995).
  CAS PubMed Google Scholar
• Grundy, P. E. et al. Loss of heterozygosity for chromosomes 16q and 1p in Wilms' tumors predicts an adverse outcome. Cancer Res. 54, 2331–2333 (1994).
  CAS PubMed Google Scholar
• Grundy, R. G., Pritchard, J., Scambler, P. & Cowell, J. K. Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour. Oncogene 17, 395–400 (1998).
  CAS PubMed Google Scholar
• Maw, M. A. et al. A third Wilms' tumor locus on chromosome 16q. Cancer Res. 52, 3094–3098 (1992).
  CAS PubMed Google Scholar
• Hing, S. et al. Gain of 1q is associated with adverse outcome in favorable histology Wilms' tumors. Am. J. Pathol. 158, 393–398 (2001).
  CAS PubMed PubMed Central Google Scholar
• Li, W. et al. A gene expression signature for relapse of primary Wilms' tumors. Cancer Res. 65, 2592–2601 (2005).
  CAS PubMed Google Scholar
• Lu, Y. J. et al. Chromosome 1q expression profiling and relapse in Wilms' tumour. Lancet 360, 385–386 (2002).
  CAS PubMed Google Scholar
• Ton, C. C. et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67, 1059–1074 (1991).
  CAS PubMed Google Scholar
• Francke, U., Holmes, L. B., Atkins, L. & Riccardi, V. M. Aniridia–Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet. Cell Genet. 24, 185–192 (1979).
  CAS PubMed Google Scholar
• Haber, D. A. et al. Alternative splicing and genomic structure of the Wilms tumor gene WT1. Proc. Natl Acad. Sci. USA 88, 9618–9622 (1991).
  CAS PubMed PubMed Central Google Scholar
• Natoli, T. A. et al. A mammal-specific exon of WT1 is not required for development or fertility. Mol. Cell Biol. 22, 4433–4438 (2002).
  CAS PubMed PubMed Central Google Scholar
• Rauscher, F. J., Morris, J. F., Tournay, O. E., Cook, D. M. & Curran, T. Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 250, 1259–1262 (1990).
  CAS PubMed Google Scholar
• Bruening, W. & Pelletier, J. A non-AUG translational initiation event generates novel WT1 isoforms. J. Biol. Chem. 271, 8646–8654 (1996).
  CAS PubMed Google Scholar
• Scharnhorst, V., Dekker, P., van der Eb, A. J. & Jochemsen, A. G. Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties. J. Biol. Chem. 274, 23456–23462 (1999).
  CAS PubMed Google Scholar
• Sharma, P. M., Bowman, M., Madden, S. L., Rauscher, F. J. & Sukumar, S. RNA editing in the Wilms' tumor susceptibility gene, WT1. Genes Dev. 8, 720–731 (1994).
  CAS PubMed Google Scholar
• Bardeesy, N., Zabel, B., Schmitt, K. & Pelletier, J. WT1 mutations associated with incomplete Denys–Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 21, 663–664 (1994).
  CAS PubMed Google Scholar
• Little, M. H. et al. Evidence that WT1 mutations in Denys–Drash syndrome patients may act in a dominant-negative fashion. Hum. Mol. Genet. 2, 259–264 (1993).
  CAS PubMed Google Scholar
• Schumacher, V. et al. 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 (1997).
  CAS PubMed PubMed Central Google Scholar
• Miyagawa, K. et al. Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour. Nature Genet. 18, 15–17 (1998).
  CAS PubMed Google Scholar
• Beckwith, J. B. New developments in the pathology of Wilms tumor. Cancer Invest. 15, 153–162 (1997).
  CAS PubMed Google Scholar
• King-Underwood, L., Renshaw, J. & Pritchard-Jones, K. Mutations in the Wilms' tumor gene WT1 in leukemias. Blood 87, 2171–2179 (1996).
  CAS PubMed Google Scholar
• Park, S. et al. The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma. Nature Genet. 4, 415–420 (1993).
  CAS PubMed Google Scholar
• Bergmann, L. et al. High levels of Wilms' tumor gene (wt1) mRNA in acute myeloid leukemias are associated with a worse long-term outcome. Blood 90, 1217–1225 (1997).
  CAS PubMed Google Scholar
• Inoue, K. et al. WT1 as a new prognostic factor and a new marker for the detection of minimal residual disease in acute leukemia. Blood 84, 3071–3079 (1994).
  CAS PubMed Google Scholar
• Keilholz, U. et al. Wilms' tumour gene 1 (WT1) in human neoplasia. Leukemia 19, 1318–1323 (2005).
  CAS PubMed Google Scholar
• Sukhatme, V. P. et al. A zinc finger-encoding gene coregulated with c-fos during growth and differentiation, and after cellular depolarization. Cell 53, 37–43 (1988).
  CAS PubMed Google Scholar
• Drummond, I. A. et al. DNA recognition by splicing variants of the Wilms' tumor suppressor, WT1. Mol. Cell. Biol. 14, 3800–3809 (1994).
  CAS PubMed PubMed Central Google Scholar
• Nakagama, H., Heinrich, G., Pelletier, J. & Housman, D. E. Sequence and structural requirements for high-affinity DNA binding by the WT1 gene product. Mol. Cell. Biol. 15, 1489–1498 (1995). Defined a high-affinity WT1 DNA-binding site (WTE).
  CAS PubMed PubMed Central Google Scholar
• Wang, Z. Y., Qiu, Q. Q., Enger, K. T. & Deuel, T. F. A second transcriptionally active DNA-binding site for the Wilms tumor gene product, WT1. Proc. Natl Acad. Sci. USA 90, 8896–8900 (1993).
  CAS PubMed PubMed Central Google Scholar
• Englert, C. et al. WT1 suppresses synthesis of the epidermal growth factor receptor and induces apoptosis. EMBO J. 14, 4662–4675 (1995).
  CAS PubMed PubMed Central Google Scholar
• Wang, Z. Y., Qiu, Q. Q. & Deuel, T. F. The Wilms' tumor gene product WT1 activates or suppresses transcription through separate functional domains. J. Biol. Chem. 268, 9172–9175 (1993).
  CAS PubMed Google Scholar
• Cook, D. M., Hinkes, M. T., Bernfield, M. & Rauscher, F. J. Transcriptional activation of the syndecan-1 promoter by the Wilms' tumor protein WT1. Oncogene 13, 1789–1799 (1996).
  CAS PubMed Google Scholar
• Maheswaran, S. et al. Inhibition of cellular proliferation by the Wilms tumor suppressor WT1 requires association with the inducible chaperone Hsp70. Genes Dev. 12, 1108–1120 (1998).
  CAS PubMed PubMed Central Google Scholar
• Sakamoto, Y., Yoshida, M., Semba, K. & Hunter, T. Inhibition of the DNA-binding and transcriptional repression activity of the Wilms' tumor gene product, WT1, by cAMP-dependent protein kinase-mediated phosphorylation of Ser-365 and Ser-393 in the zinc finger domain. Oncogene 15, 2001–2012 (1997).
  CAS PubMed Google Scholar
• Ye, Y., Raychaudhuri, B., Gurney, A., Campbell, C. E. & Williams, B. R. Regulation of WT1 by phosphorylation: inhibition of DNA binding, alteration of transcriptional activity and cellular translocation. EMBO J. 15, 5606–5615 (1996).
  CAS PubMed PubMed Central Google Scholar
• Smolen, G. A., Vassileva, M. T., Wells, J., Matunis, M. J. & Haber, D. A. SUMO-1 modification of the Wilms' tumor suppressor WT1. Cancer Res. 64, 7846–7851 (2004).
  CAS PubMed Google Scholar
• Wang, W., Lee, S. B., Palmer, R., Ellisen, L. W. & Haber, D. A. A functional interaction with CBP contributes to transcriptional activation by the Wilms tumor suppressor WT1. J. Biol. Chem. 276, 16810–16816 (2001).
  CAS PubMed Google Scholar
• Maheswaran, S., Englert, C., Bennett, P., Heinrich, G. & Haber, D. A. The WT1 gene product stabilizes p53 and inhibits p53-mediated apoptosis. Genes Dev. 9, 2143–2156 (1995).
  CAS PubMed Google Scholar
• Maheswaran, S. et al. Physical and functional interaction between WT1 and p53 proteins. Proc. Natl Acad. Sci. USA 90, 5100–5104 (1993).
  CAS PubMed PubMed Central Google Scholar
• Scharnhorst, V., Dekker, P., van der Eb, A. J. & Jochemsen, A. G. Physical interaction between Wilms tumor 1 and p73 proteins modulates their functions. J. Biol. Chem. 275, 10202–10211 (2000).
  CAS PubMed Google Scholar
• Johnstone, R. W. et al. A novel repressor, par-4, modulates transcription and growth suppression functions of the Wilms' tumor suppressor WT1. Mol. Cell. Biol. 16, 6945–6956 (1996).
  CAS PubMed PubMed Central Google Scholar
• Johnstone, R. W. et al. Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1. J. Biol. Chem. 273, 10880–10887 (1998).
  CAS PubMed Google Scholar
• Wang, Z. Y. et al. Molecular cloning of the cDNA and chromosome localization of the gene for human ubiquitin-conjugating enzyme 9. J. Biol. Chem. 271, 24811–24816 (1996).
  CAS PubMed Google Scholar
• Rae, F. K. et al. Analysis of complementary expression profiles following WT1 induction versus repression reveals the cholesterol/fatty acid synthetic pathways as a possible major target of WT1. Oncogene 23, 3067–3079 (2004).
  CAS PubMed Google Scholar
• English, M. A. & Licht, J. D. Tumor-associated WT1 missense mutants indicate that transcriptional activation by WT1 is critical for growth control. J. Biol. Chem. 274, 13258–13263 (1999).
  CAS PubMed Google Scholar
• Englert, C., Maheswaran, S., Garvin, A. J., Kreidberg, J. & Haber, D. A. Induction of p21 by the Wilms' tumor suppressor gene WT1. Cancer Res. 57, 1429–1434 (1997).
  CAS PubMed Google Scholar
• Hewitt, S. M., Hamada, S., McDonnell, T. J., Rauscher, F. J. & Saunders, G. F. Regulation of the proto-oncogenes bcl-2 and c-myc by the Wilms' tumor suppressor gene WT1. Cancer Res. 55, 5386–5389 (1995).
  CAS PubMed Google Scholar
• Mayo, M. W. et al. WT1 modulates apoptosis by transcriptionally upregulating the bcl-2 proto-oncogene. EMBO J. 18, 3990–4003 (1999).
  CAS PubMed PubMed Central Google Scholar
• Lee, S. B. et al. The Wilms tumor suppressor WT1 encodes a transcriptional activator of amphiregulin. Cell 98, 663–673 (1999). Used expression arrays to identify a physiological target of WT1(−KTS).
  CAS PubMed Google Scholar
• Hosono, S. et al. E-cadherin is a WT1 target gene. J. Biol. Chem. 275, 10943–10953 (2000).
  CAS PubMed Google Scholar
• Gross, I. et al. The receptor tyrosine kinase regulator Sprouty1 is a target of the tumor suppressor WT1 and important for kidney development. J. Biol. Chem. 278, 41420–41430 (2003).
  CAS PubMed Google Scholar
• Palmer, R. E. et al. WT1 regulates the expression of the major glomerular podocyte membrane protein podocalyxin. Curr. Biol. 11, 1805–1809 (2001).
  CAS PubMed Google Scholar
• Wagner, N., Wagner, K. D., Xing, Y., Scholz, H. & Schedl, A. The major podocyte protein nephrin is transcriptionally activated by the Wilms' tumor suppressor WT1. J. Am. Soc. Nephrol. 15, 3044–3051 (2004).
  PubMed Google Scholar
• Guo, G., Morrison, D. J., Licht, J. D. & Quaggin, S. E. WT1 activates a glomerular-specific enhancer identified from the human nephrin gene. J. Am. Soc. Nephrol. 15, 2851–2856 (2004).
  CAS PubMed Google Scholar
• Wilhelm, D. & Englert, C. The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1. Genes Dev. 16, 1839–1851 (2002).
  CAS PubMed PubMed Central Google Scholar
• Kim, J. et al. The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation. Mol. Cell. Biol. 19, 2289–2299 (1999).
  CAS PubMed PubMed Central Google Scholar
• Wagner, K. D. et al. The Wilms' tumor gene Wt1 is required for normal development of the retina. EMBO J. 21, 1398–1405 (2002).
  CAS PubMed PubMed Central Google Scholar
• Englert, C. et al. Truncated WT1 mutants alter the subnuclear localization of the wild-type protein. Proc. Natl Acad. Sci. USA 92, 11960–11964 (1995).
  CAS PubMed PubMed Central Google Scholar
• Larsson, S. H. et al. Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81, 391–401 (1995). Determined that different isoforms of WT1 have different subnuclear localization patterns and might be preferentially associated with DNA or splicing factors.
  CAS PubMed Google Scholar
• Davies, R. C. et al. WT1 interacts with the splicing factor U2AF65 in an isoform-dependent manner and can be incorporated into spliceosomes. Genes Dev. 12, 3217–3225 (1998).
  CAS PubMed PubMed Central Google Scholar
• Ladomery, M. R., Slight, J., Mc Ghee, S. & Hastie, N. D. Presence of WT1, the Wilm's tumor suppressor gene product, in nuclear poly(A)(+) ribonucleoprotein. J. Biol. Chem. 274, 36520–36526 (1999).
  CAS PubMed Google Scholar
• Little, N. A., Hastie, N. D. & Davies, R. C. Identification of WTAP, a novel Wilms' tumour 1-associating protein. Hum. Mol. Genet. 9, 2231–2239 (2000).
  CAS PubMed Google Scholar
• Caricasole, A. et al. RNA binding by the Wilms tumor suppressor zinc finger proteins. Proc. Natl Acad. Sci. USA 93, 7562–7566 (1996).
  CAS PubMed PubMed Central Google Scholar
• Hammes, A. et al. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 106, 319–329 (2001). Demonstrated that WT1(−KTS) and (+KTS) isoforms have overlapping but distinct roles in renal and gonadal development.
  CAS PubMed Google Scholar
• Scharnhorst, V., van der Eb, A. J. & Jochemsen, A. G. WT1 proteins: functions in growth and differentiation. Gene 273, 141–161 (2001).
  CAS PubMed Google Scholar
• Wagner, K. D., Wagner, N. & Schedl, A. The complex life of WT1. J. Cell Sci. 116, 1653–1658 (2003).
  CAS PubMed Google Scholar
• Lee, S. B. & Haber, D. A. Wilms tumor and the WT1 gene. Exp. Cell Res. 264, 74–99 (2001).
  CAS PubMed Google Scholar
• Donovan, M. J. et al. Initial differentiation of the metanephric mesenchyme is independent of WT1 and the ureteric bud. Dev. Genet. 24, 252–262 (1999).
  CAS PubMed Google Scholar
• Basson, M. A. et al. Sprouty1 Is a critical regulator of GDNF/RET-mediated kidney Induction. Dev. Cell 8, 229–239 (2005).
  CAS PubMed Google Scholar
• Armstrong, J. F., Pritchard-Jones, K., Bickmore, W. A., Hastie, N. D. & Bard, J. B. The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo. Mech. Dev. 40, 85–97 (1993).
  CAS PubMed Google Scholar
• Moore, A. W., McInnes, L., Kreidberg, J., Hastie, N. D. & Schedl, A. YAC complementation shows a requirement for Wt1 in the development of epicardium, adrenal gland and throughout nephrogenesis. Development 126, 1845–1857 (1999). Used YAC complementation to reveal a role for WT1 in later stages of kidney development.
  CAS PubMed Google Scholar
• Moore, A. W. et al. YAC transgenic analysis reveals Wilms' tumour 1 gene activity in the proliferating coelomic epithelium, developing diaphragm and limb. Mech. Dev. 79, 169–184 (1998).
  CAS PubMed Google Scholar
• Herzer, U., Crocoll, A., Barton, D., Howells, N. & Englert, C. The Wilms tumor suppressor gene wt1 is required for development of the spleen. Curr. Biol. 9, 837–840 (1999).
  CAS PubMed Google Scholar
• Guo, J. K. et al. WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum. Mol. Genet. 11, 651–659 (2002).
  CAS PubMed Google Scholar
• Patek, C. E. et al. A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys–Drash syndrome. Proc. Natl Acad. Sci. USA 96, 2931–2936 (1999).
  CAS PubMed PubMed Central Google Scholar
• Breslow, N. E., Takashima, J. R., Ritchey, M. L., Strong, L. C. & Green, D. M. Renal failure in the Denys–Drash and Wilms' tumor-aniridia syndromes. Cancer Res. 60, 4030–4032 (2000).
  CAS PubMed Google Scholar
• Natoli, T. A. et al. A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys–Drash syndrome interferes with glomerular capillary development. J. Am. Soc. Nephrol. 13, 2058–2067 (2002).
  CAS PubMed Google Scholar
• Patek, C. E. et al. Murine Denys–Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. Hum. Mol. Genet. 12, 2379–2394 (2003).
  CAS PubMed Google Scholar
• Hosono, S. et al. WT1 expression induces features of renal epithelial differentiation in mesenchymal fibroblasts. Oncogene 18, 417–427 (1999).
  CAS PubMed Google Scholar
• Ellisen, L. W., Carlesso, N., Cheng, T., Scadden, D. T. & Haber, D. A. The Wilms tumor suppressor WT1 directs stage-specific quiescence and differentiation of human hematopoietic progenitor cells. EMBO J. 20, 1897–1909 (2001).
  CAS PubMed PubMed Central Google Scholar
• Alberta, J. A. et al. Role of the WT1 tumor suppressor in murine hematopoiesis. Blood 101, 2570–2574 (2003).
  CAS PubMed Google Scholar
• Davies, J. A. et al. Development of an siRNA-based method for repressing specific genes in renal organ culture and its use to show that the Wt1 tumour suppressor is required for nephron differentiation. Hum. Mol. Genet. 13, 235–246 (2004).
  CAS PubMed Google Scholar
• Kudoh, T., Ishidate, T., Moriyama, M., Toyoshima, K. & Akiyama, T. G1 phase arrest induced by Wilms tumor protein WT1 is abrogated by cyclin/CDK complexes. Proc. Natl Acad. Sci. USA 92, 4517–4521 (1995).
  CAS PubMed PubMed Central Google Scholar
• Menke, A. L. et al. Genetic interactions between the Wilms' tumor 1 gene and the p53 gene. Cancer Res. 62, 6615–6620 (2002).
  CAS PubMed Google Scholar
• Sharma, P. M., Bowman, M., Yu, B. F. & Sukumar, S. A rodent model for Wilms tumors: embryonal kidney neoplasms induced by N-nitroso-N'-methylurea. Proc. Natl Acad. Sci. USA 91, 9931–9935 (1994).
  CAS PubMed PubMed Central Google Scholar
• Gerald, W. L. et al. Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants. J. Clin. Oncol. 16, 3028–3036 (1998).
  CAS PubMed Google Scholar
• Ladanyi, M. & Gerald, W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res. 54, 2837–2840 (1994). Identified the fusion of EWSR1 and WT1 in the characteristic translocation of DSRCT.
  CAS PubMed Google Scholar
• Gerald, W. L., Rosai, J. & Ladanyi, M. Characterization of the genomic breakpoint and chimeric transcripts in the EWS–WT1 gene fusion of desmoplastic small round cell tumor. Proc. Natl Acad. Sci. USA 92, 1028–1032 (1995).
  CAS PubMed PubMed Central Google Scholar
• Delattre, O. et al. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 359, 162–165 (1992).
  CAS PubMed Google Scholar
• Lee, S. B. et al. The EWS–WT1 translocation product induces PDGFA in desmoplastic small round-cell tumour. Nature Genet. 17, 309–313 (1997).
  CAS PubMed Google Scholar
• Finkeltov, I. et al. Transcriptional regulation of IGF-I receptor gene expression by novel isoforms of the EWS–WT1 fusion protein. Oncogene 21, 1890–1898 (2002).
  CAS PubMed Google Scholar
• Wong, J. C. et al. Induction of the interleukin-2/15 receptor β-chain by the EWS–WT1 translocation product. Oncogene 21, 2009–2019 (2002).
  CAS PubMed Google Scholar
• Palmer, R. E. et al. Induction of BAIAP3 by the EWS–WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis. Cancer Cell 2, 497–505 (2002).
  CAS PubMed Google Scholar
• Reynolds, P. A. et al. Identification of a DNA-binding site and transcriptional target for the EWS–WT1(+KTS) oncoprotein. Genes Dev. 17, 2094–2107 (2003).
  CAS PubMed PubMed Central Google Scholar
• Udtha, M., Lee, S. J., Alam, R., Coombes, K. & Huff, V. Upregulation of c-MYC in _WT1_-mutant tumors: assessment of WT1 putative transcriptional targets using cDNA microarray expression profiling of genetically defined Wilms' tumors. Oncogene 22, 3821–3826 (2003).
  CAS PubMed Google Scholar
• Li, C. M. et al. CTNNB1 mutations and overexpression of Wnt/β-catenin target genes in _WT1_-mutant Wilms' tumors. Am. J. Pathol. 165, 1943–1953 (2004).
  CAS PubMed PubMed Central Google Scholar
• Stark, K., Vainio, S., Vassileva, G. & McMahon, A. P. Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4. Nature 372, 679–683 (1994).
  CAS PubMed Google Scholar
• Sim, E. U. et al. Wnt-4 regulation by the Wilms' tumour suppressor gene, WT1. Oncogene 21, 2948–2960 (2002).
  CAS PubMed Google Scholar
• Itaranta, P. et al. Wnt-6 is expressed in the ureter bud and induces kidney tubule development in vitro. Genesis 32, 259–268 (2002).
  CAS PubMed Google Scholar
• Majumdar, A., Vainio, S., Kispert, A., McMahon, J. & McMahon, A. P. Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development. Development 130, 3175–3185 (2003).
  CAS PubMed Google Scholar
• Waziri, M., Patil, S. R., Hanson, J. W. & Bartley, J. A. Abnormality of chromosome 11 in patients with features of Beckwith–Wiedemann syndrome. J. Pediatr. 102, 873–876 (1983).
  CAS PubMed Google Scholar
• Koufos, A. et al. Familial Wiedemann–Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am. J. Hum. Genet. 44, 711–719 (1989).
  CAS PubMed PubMed Central Google Scholar
• Ping, A. J. et al. Genetic linkage of Beckwith–Wiedemann syndrome to 11p15. Am. J. Hum. Genet. 44, 720–723 (1989).
  CAS PubMed PubMed Central Google Scholar
• Grundy, P. et al. Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms. Lancet 338, 1079–1080 (1991).
  CAS PubMed Google Scholar
• Henry, I. et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351, 665–667 (1991). Described uniparental paternal disomy at 11p15 in Beckwith–Wiedemann syndrome.
  CAS PubMed Google Scholar
• Feinberg, A. P. & Tycko, B. The history of cancer epigenetics. Nature Rev. Cancer 4, 143–153 (2004).
  CAS Google Scholar
• Brown, K. W., Williams, J. C., Maitland, N. J. & Mott, M. G. Genomic imprinting and the Beckwith–Wiedemann syndrome. Am. J. Hum. Genet. 46, 1000–1001 (1990).
  CAS PubMed PubMed Central Google Scholar
• Mannens, M. et al. Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. Hum. Genet. 81, 41–48 (1988).
  CAS PubMed Google Scholar
• Giannoukakis, N., Deal, C., Paquette, J., Goodyer, C. G. & Polychronakos, C. Parental genomic imprinting of the human IGF2 gene. Nature Genet. 4, 98–101 (1993).
  CAS PubMed Google Scholar
• DeChiara, T. M., Efstratiadis, A. & Robertson, E. J. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345, 78–80 (1990).
  CAS PubMed Google Scholar
• Eggenschwiler, J. et al. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes. Genes Dev. 11, 3128–3142 (1997).
  CAS PubMed PubMed Central Google Scholar
• Bartolomei, M. S., Zemel, S. & Tilghman, S. M. Parental imprinting of the mouse H19 gene. Nature 351, 153–155 (1991).
  CAS PubMed Google Scholar
• Zhang, Y. & Tycko, B. Monoallelic expression of the human H19 gene. Nature Genet. 1, 40–44 (1992).
  CAS PubMed Google Scholar
• Hao, Y., Crenshaw, T., Moulton, T., Newcomb, E. & Tycko, B. Tumour-suppressor activity of H19 RNA. Nature 365, 764–767 (1993).
  CAS PubMed Google Scholar
• Moulton, T. et al. Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nature Genet. 7, 440–447 (1994).
  CAS PubMed Google Scholar
• Steenman, M. J. et al. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nature Genet. 7, 433–439 (1994).
  CAS PubMed Google Scholar
• Sparago, A. et al. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith–Wiedemann syndrome. Nature Genet. 36, 958–960 (2004).
  CAS PubMed Google Scholar
• Matsuoka, S. et al. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proc. Natl Acad. Sci. USA 93, 3026–3030 (1996).
  CAS PubMed PubMed Central Google Scholar
• Lee, M. P. et al. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Natl Acad. Sci. USA 96, 5203–5208 (1999).
  CAS PubMed PubMed Central Google Scholar
• Smilinich, N. J. et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome. Proc. Natl Acad. Sci. USA 96, 8064–8069 (1999).
  CAS PubMed PubMed Central Google Scholar
• DeBaun, M. R. et al. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith–Wiedemann syndrome with cancer and birth defects. Am. J. Hum. Genet. 70, 604–611 (2002).
  CAS PubMed PubMed Central Google Scholar
• Mannens, M. et al. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith–Wiedemann syndrome and various human neoplasia. Eur. J. Hum. Genet. 2, 3–23 (1994).
  CAS PubMed Google Scholar
• Karnik, P., Chen, P., Paris, M., Yeger, H. & Williams, B. R. Loss of heterozygosity at chromosome 11p15 in Wilms tumors: identification of two independent regions. Oncogene 17, 237–240 (1998).
  CAS PubMed Google Scholar
• Ahuja, H. G., Foti, A., Zhou, D. J. & Cline, M. J. Analysis of proto-oncogenes in acute myeloid leukemia: loss of heterozygosity for the Ha-ras gene. Blood 75, 819–822 (1990).
  CAS PubMed Google Scholar
• Weston, A. et al. Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung. Proc. Natl Acad. Sci. USA 86, 5099–5103 (1989).
  CAS PubMed PubMed Central Google Scholar
• Vainio, S. & Lin, Y. Coordinating early kidney development: lessons from gene targeting. Nature Rev. Genet. 3, 533–543 (2002).
  CAS PubMed Google Scholar
• Neri, G., Gurrieri, F., Zanni, G. & Lin, A. Clinical and molecular aspects of the Simpson–Golabi–Behmel syndrome. Am. J. Med. Genet. 79, 279–283 (1998).
  CAS PubMed Google Scholar
• Cano-Gauci, D. F. et al. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson–Golabi–Behmel syndrome. J. Cell Biol. 146, 255–264 (1999).
  CAS PubMed PubMed Central Google Scholar
• Karumanchi, S. A. et al. Cell surface glypicans are low-affinity endostatin receptors. Mol. Cell 7, 811–822 (2001).
  CAS PubMed Google Scholar
• Karihaloo, A. et al. Endostatin regulates branching morphogenesis of renal epithelial cells and ureteric bud. Proc. Natl Acad. Sci. USA 98, 12509–12514 (2001).
  CAS PubMed PubMed Central Google Scholar
• Gillan, T. L., Hughes, R., Godbout, R. & Grundy, P. E. The Simpson–Golabi–Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis. Am. J. Med. Genet. A 122, 30–36 (2003).
  Google Scholar
• Yu, J., McMahon, A. P. & Valerius, M. T. Recent genetic studies of mouse kidney development. Curr. Opin. Genet. Dev. 14, 550–557 (2004).
  CAS PubMed Google Scholar
• Brophy, P. D., Ostrom, L., Lang, K. M. & Dressler, G. R. Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene. Development 128, 4747–4756 (2001).
  CAS PubMed Google Scholar
• Xu, P. X. et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nature Genet. 23, 113–117 (1999).
  CAS PubMed Google Scholar
• Moore, M. W. et al. Renal and neuronal abnormalities in mice lacking GDNF. Nature 382, 76–79 (1996).
  CAS PubMed Google Scholar
• Pichel, J. G. et al. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature 382, 73–76 (1996).
  CAS PubMed Google Scholar
• Sanchez, M. P. et al. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 382, 70–73 (1996).
  CAS PubMed Google Scholar
• Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F. & Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367, 380–383 (1994).
  CAS PubMed Google Scholar
• Dudley, A. T., Lyons, K. M. & Robertson, E. J. A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye. Genes Dev. 9, 2795–2807 (1995).
  CAS PubMed Google Scholar
• Miyazaki, Y., Oshima, K., Fogo, A., Hogan, B. L. & Ichikawa, I. Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter. J. Clin. Invest. 105, 863–873 (2000).
  CAS PubMed PubMed Central Google Scholar
• Hersh, J. H., Cole, T. R., Bloom, A. S., Bertolone, S. J. & Hughes, H. E. Risk of malignancy in Sotos syndrome. J. Pediatr. 120, 572–574 (1992).
  CAS PubMed Google Scholar
• Kurotaki, N. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genet. 30, 365–366 (2002).
  CAS PubMed Google Scholar
• Henneveld, H. T., van Lingen, R. A., Hamel, B. C., Stolte-Dijkstra, I. & van Essen, A. J. Perlman syndrome: four additional cases and review. Am. J. Med. Genet. 86, 439–446 (1999).
  CAS PubMed Google Scholar