Pax2 in development and renal disease

International Journal of Developmental Biology

Volumn 43, Issue 5, 1999, Pages 463-468

  Dressler, Gregory R ^a   Woolf, Adrian S ^b  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Fetal kidney obstruction; Multicystic dysplastic kidney; Pax2; Renal tumours; Renal coloboma syndrome; Vesicoureteric reflux

Indexed keywords

PROTEIN;

CARCINOGENESIS; FETUS (ANATOMY); GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DISEASE; KIDNEY TUMOR; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; VESICOURETERAL REFLUX;

MAMMALIA;

EID: 0032885363     PISSN: 02146282     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (55)

1. ADAMS, B., DOERFLER, P., AGUZZI, A., KOZMIK, Z., URBANEK, P., MAURER-FOGY, I. and BUSSLINGER, M. (1992). Pax-5 encodes the transcription factor BSAP and is expressed in b lymphocytes, the developing CNS, and the adult testis. Genes Dev. 6: 1589-1607
2. ATTAR, R., QUINN, F., WINYARD, P.J.D., MOURIQUAND, P.D.E., FOXALL, P., HANSON, M.A. and WOOLF, A.S. (1998). Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys. Am. J. Pathol. 152: 1225-1235.
3. BARRETT, D.M. and WINEL, R.E. (1980). Renal cell carcinoma in multicystic dysplastic kidney. Urology 15: 152-154.
4. BATTIN, J., LACOMBE, D. and LENG, J.J. (1993). Familial occurrence of hereditary renal adysplasia with Mullerian anomalies. Clin. Genet. 43: 23-24.
5. CHALEPAKIS, G., JONES, F.S., EDELMAN, G.M. and GRUSS, P. (1994). Pax-3 contains domains for transcription activation and transcription nhibition. Proc. Natl. Acad Sci. USA 91: 12745-12749.
6. CHO, K-L., MCNOE, L.A., FRENCH, M.C., GUILFORD, P.J. and ECCLES, M.R. (1998). Absence of PAX2 gene mutations in patients with orimary familial vesicoureteric reflux. J. Med. Genet. 35: 338-339.
7. CROMIE, W.J., ENGELSTEIN, M.S. and DUCKETT, J.W. (1980). Nodular renal blastema, renal blastema and duplicated collecting systems. J. Urol. 123: 100-102.
8. CZERNY, T., SCHAFFNER, G. and BUSSLINGER, M. (1993). DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Genes Dev. 7: 2048-2061.
9. DRESSLER, G.R. and DOUGLAS, E.C. (1992). Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc. Natl. Acad. Sci. USA 89: 1179-1183.
10. DRESSLER, G.R. WILKINSON, J.E., ROTHENPIELER, U.W., PATTERSON, L.T., WILLIAMS-SIMONS, L. and WESTPHAL, H. (1993). Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities. Nature 362: 65-67.
11. ECCLES, M.R., YUN, K., REEVE, A.E. and FIDLER, A.E. (1995). Comparative in situ hybridisation analysis of PAX2, PAX8 and WT1 gene transcription in human fetal kidney and Wilms' tumors. Am. J. Pathol. 146: 40-50.
12. EPSTEIN, J., CAI, J., GLASER, T., JEPEAL, L. and MAAS, R.L. (1994a). Identification of a Pax paired domain recognition sequence and evidence for DNA dependent conformational changes. J. Biol. Chem. 269: 8355-8361.
13. EPSTEIN, J., GLASER, T., CAI, J., JEPEAL, L., WALTON, D.S. and MAAS, R.L. (1994b).Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev. 8: 2022-2034..
14. 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye and kidney. Proc. Natl. Acad. Sci. USA 93: 13870-13875.
15. FEATHER, S., WOOLF, A.S., ALLISON, J., BARRATT, T.M., BLAYDON, D.C. and MALCOLM, S. (1997). Exclusion of key nephrogenesis genes as candidates for familial vesicoureteric reflux. J. Am. Soc. Nephrol. 8: 388A.
16. FEATHER, S., WOOLF, A.S., GORDON, I., RISDON, R.A., and VERRIER-JONES, K. (1996). Vesicoureteric reflux - is it all in the genes? Lancet 348: 725-728.
17. FITZSIMMONS, D., HODSDON, W., WHEAT, W., MAIRA, S.-M., WASYLYK, B. and HAGMAN, J. (1996). Pax-5 (BSAP) recruits Ets proto-oncogene family proteins to form functional ternary complexes on a B-cell-specific promoter. Genes Dev. 10: 2198-2211.
18. GNARRA, J.R. and DRESSLER, G.R. (1995). Expression of Pax-2 in human renal cell carcinoma and growth inhibition by antisense oligonucleotides. Cancer Res. 55: 4092-4098.
19. GRIGNON, D.J. and EBLE, J.N. (1998). Renal neoplasms. In Heptinstall's Pathology of the Kidney. Chapter 34. 5th edition. (Eds. J.C. Jennette, J.L. Olson, M.M. Schwartz, F.G. Silva). Lippincott-Raven, Philadelphia-New York, USA. pp. 1541-1573.
20. GROENEN, P.M.A., GARCIA, E., DEBEER, P., DEVRIEND, T.K., FRYNS, J.P. and VAN DE VEN, W.J.M. (1996). Structure, sequence, and chromosme 19 localisation of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. Genomics 38: 141-148.
21. GROENEN, P.M., VANDERLINDEN, G., DEVRIENDT, K., FRYNS, M.P. and VAN DE VEN, W.J. (1998). Rearrangement of the human CDC5L gene by a z(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics 49:218-229.
22. HANSON, I. and VAN HEYNINGEN, V. (1995). Pax6: more than meets the eye. Trends Genet. 11: 268-272.
23. HERZLINGER, D., QIAO, J., COHEN, D., RAMAKRISHNA, N. and BROWN, A.M.C. (1994). Induction of kidney epithelial morphogenesis by cell expressing Wnt-1. Dev. Biol. 166: 815-818.
24. KELLER, S.A., JONES, J.M., BOYLE, A. BARROW, L.L., KILLEN, P.D. GREEN, D.G., KAPOUSTA, N..V, HITCHCOCK, P.F., SWANK, R.T. and MEISLER, M. (1994). Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics 23: 309-320.
25. KISPERT, A., VAINIO, S. and McMAHON, A.P. (1998). Wnt-4 is a mesenchymal signal for epithelial transformation of metanephric mesenchyme in the developing kidney. Development 125: 4225-4234.
26. LECHNER, M.S. and DRESSLER, G.R. (1996). Mapping of Pax-2 transcription activation domains. J. Biol. Chem. 271: 21088-21093.
27. MAGNAGHI, P., ROBERTS, C., LORAIN, S., LIPINSKI, M. and SCAMBLER, P.J. (1998). HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Nature Genet. 20: 74-77.
28. MAILHOS, C., ANDRE, S., MOLLEREAU, B., GORIELY, A., HEMMATI-BRIVANLOU, A. and DESPLAN, C. (1998). Drosophila goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators. Development 125: 937-947.
29. MAULBECKER, C.C. and GRUSS, P. (1993). The oncogenic potential of Pax genes. EMBO J. 12: 2361-2367.
30. McENERY, P.T., STABLEIN, D.M., ARBUS, G. and TEJANI, A. (1992). Renal transplantation in children. New Engl. J. Med. 326: 1727-1732.
31. NARAHARA, K., BAKER, E., ITO, S., YOKOYAMA, Y., YU, S., HEWITT, D., SUTHERLAND, G.R., ECCLES, M.R. and RICHARDS, R.I. (1997). Localisation of a 10q breakpoint within the PAX2 gene in a patients with a de novo t(10;13) translocation and optic nerve coloboma-renal syndrome. J. Med. Genet. 34: 213-216.
32. NOIA, G., MASINI, L., DE SANTIS, M. and CARUSO, A. (1996). The impact of invasive procedures on prognostic, diagnostic and therapeutic aspects or urinary tract anomalies. In Neonatal Nephrology in Progress. (Eds. L. Cataldi, V. Fanos, U. Simeoni) Agora, Lecce, Italy. pp. 67-84.
33. PHELPS, D.E. and DRESSLER, G.R. (1996).Identification of novel pax-2 binding sites by chromatin precipitation. J. Biol. Chem. 271: 7978-7985.
34. POLEEV, A., FICKENSCHER, H., MUNDLOS, S., WINTERPACHT, A., ZABEL, B., FIDLER, A., GRUSS, P. and PLACHOV, D. (1992). PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors. Development 116: 611-623.
35. READ, A.P. (1995). Pax genes - Pairedfeet in three camps. Nature Genet. 5: 333-334.
36. RIEGER, G. (1977). On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? Klin. Monatsbl. Augenheilkd. 170: 697-706. (German).
37. RISDON, R.A. and WOOLF, A.S. (1998). Development of the kidney. In Heptinstall's Pathology of the Kidney. Chapter 2. 5th edition. (Eds. J.C. Jennette, J.L. Olson, M.M. Schwartz, F.G. Silva). Lippincott-Raven, Philadelphia-New York, USA. pp. 67-84.
38. ROTHENPIELER, U.W. and DRESSLER, G.R. (1993). Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 119: 711-720.
39. RYAN, G., STEELE-PERKINS, V., MORRIS, J., RAUSCHER, F.J., III. and DRESSLER, G.R. (1995). Repression of Pax-2 by WT1 during normal kidney development. Development 121: 867-875.
40. SALOMON, R., TELLIER, A.L., ATTIE, T., ANTIGNAC, C., MUNNICH, A., NIAUDET, P., GUBLER, M.C. and BROYER, M. (1998). Pax-2 mutations in oligomeganephronic renal hypoplasia. 7th International Workshop on Developmental Nephrology, Stockholm, Sweden.
41. SANYANUSIN, P., MCNOE, LA., SULLIVAN, M.J., WEAVER, R.G. and ECCLES, M.R. (1995a). Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum. Mol. Genet. 4: 2183-2184.
42. SANYANUSIN, P., SCHIMMENTL, L.A., MCNOE, L.A., WARD, T.A., PIERPOINT, M.E.M., SULLIVAN, M.J., DOBYNS, W.B. and ECCLES, M.R. (1995b). Mutations of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet. 9: 358-364.
43. SCHIMMENTI, L.A., CUNLIFFE, H.E., MCNOE, L.A., WARD, T.A., FRENCH, M.C., SHIM, H.H., ZHANG, Y-H., PROESMANS, W., LEYS, A., BYERLY, K.A., BRADDOCK, S.R., MASUNO, M., IMAIZUMI, K., DEVRIEND, T. K. and ECCLES, M.R. (1997). Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am. J. Hum. Genet. 60: 968-978.
44. SCHIMMENTI, L.A. PIERPONT, M.E., CARPENTER, B.L., KASHTAN, C.E., JOHNSON, M.R. and DOBYNS, W.B. (1995). Autosomal dominant optic nerve colobomas, vesicouretric reflux and renal anomalies. Am. J. Med. Genet. 59: 204-208.
45. SMITH, ST. and JAYNES, J.B. (1996). A conserved region of engrailed, shared among all en-, gsc-, Nk1-, Nk2- and msh-class homeoproteins, mediates active transcriptional repression in vivo. Development 122: 3141-3150.
46. STARK, K., VAINIO, S., VASSILEVA, G. and McMAHON, A.P. (1994). Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4. Nature 372: 679-683.
47. STUART, E.T. and GRUSS, P. (1996). PAX: developmental control genes in cell growth and differentiation. Cell Growth Differ. 7: 405-412.
48. STUART, E.T. HAFFNER, R., OREN, M. and GRUSS, P. (1995). Loss of p53 function through PAX-mediated transcriptional repression. EMBO J. 14: 5638-5645.
49. TORRES, M., GOMEX-PARDO, E., DRESSLER, G.R. and GRUSS, P. (1995). Pax-2 controls multiple steps of urogenital development. Development 121: 4057-4065.
50. TREISMAN, J., HARRIS, E. and DESPLAN, C. (1991). The paired box encodes a second DNA-binding domain in the paired homeo-domain protein. Genes Dev. 5: 594-604.
51. WINYARD, P.J.D., BAO, Q., HUGHES, R.C. and WOOLF, A.S. (1997). Epithelial galectin-3 during human nephrogenesis and childhood cystic diseases. J. Am. Soc. Nephrol. 8: 1647-1657.
52. WINYARD, P.J.D., NAUTA, J., LIRENMAN, D.S., HARDMAN, P., SAMS, V.R., RISDON, A.R. and WOOLF, A.S. (1996a). Deregulation of cell survival in cystic and dysplastic renal development. Kidney Int. 49: 135-146.
53. WINYARD, P.J.D., RISDON, R.A., SAMS, V.R., DRESSLER, G.R. and WOOLF, A.S. (1996b). The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J. Clin. Invest. 98: 451-459.
54. WOOLF, A.S. and WINYARD, P.J.D. (1998). Advances in the cell biology and genetics of human kidney malformations. J. Am. Soc. Nephrol. 9: 1114-1125.
55. XU, W., ROULD, M.A., JUN, S., DESPLAN, C. and PABO, C.O. (1995). Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell 80: 639-650.