The role of PAX2 in normal and abnormal development of the urinary tract

Pediatric Nephrology

Volumn 12, Issue 9, 1998, Pages 712-720

  Eccles, Michael R ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Kidney development; Multicystic dysplasic kidney; PAX genes; PAX2; Urogenital tract; Vesicoureteric reflux; Wilms tumor

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; GENE CONTROL; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DYSPLASIA; KIDNEY FAILURE; PHENOTYPE; PRIORITY JOURNAL; URINARY TRACT DISEASE; URINARY TRACT MALFORMATION; UROGENITAL SYSTEM; UROTHELIUM;

ANIMALS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; KIDNEY; MICE; MUTATION; PAX2 TRANSCRIPTION FACTOR; PREGNANCY; TRANSCRIPTION FACTORS; URINARY TRACT;

EID: 0031732947     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050533     Document Type: Article

References (61)

1. Colodny AH (1987) Antenatal diagnosis and management of urinary abnormalities. Pediatr Clin North Am 34:1,365-1,381
2. Saxen L (1987) Organogenesis of the kidney. Cambridge University Press, Cambridge, pp 1-34
3. Lechner MS, Dressler GR (1997) The molecular basis of embryonic kidney development. Mech Dev 62:105-120
4. Sariola H, Sainio K (1997) The tip top branching ureter. Curr Opin Cell Biol 9:877-884
5. Vainio S, Muller U (1997) Inductive tissue interactions, cell signalling, and the control of kidney organogenesis Cell 90: 975-978
6. Potter EL (1972) Normal and abnormal development of the kidney. Year Book Medical Publishers, Chicago
7. Mansouri A, Hallonet M, Gruss P (1996) Pax genes and their roles in cell differentiation and development. Curr Opin Cell Biol 8:851-857
8. Dahl E, Koseki H, Balling R (1997) Pax genes and organogenesis Bioessays 19:755-764
9. Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109:787-795
10. Nornes HO, Dressler GR, Knapik EW, Deutsch U, Gruss P (1990) Spatially and temporally restricted expression of Pax2 during murine neurogenesis. Development 109:797-809
11. Puschel AW, Westerfield M, Dressler GR (1992) Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish. Mech Dev 38:197-208
12. Chamberlin HM, Palmer RE, Newman AP, Sternberg PW, Baillie DL, Thomas JH (1997) The PAX gene egl-38 mediates developmental patterning in Caenorhabditis elegans. Development 124:3,919-3,927
13. Fu W, Noll M (1997) The Pax2 homolog sparkling is required for development of cone and pigment cells in the Drosophila eye. Genes Dev 11:2,066-2,078
14. Narahara K, Baker E, Ito S, Yokoyama Y. Yu S, Hewitt D, Sutherland GR, Eccles MR, Richards RI (1997) Localization of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 34:213-216
15. Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA, Eccles MR (1996) Genomic structure of the human PAX2 gene. Genomics 35:258-261
16. Lechner MS, Dressler GR (1996) Mapping of Pax-2 transcription activation domains. J Biol Chem 271:21,088-21,093
17. Ward TR, Nebel A, Reeve AE, Eccles MR (1994) Alternative mRNA forms and open reading frames within an additional conserved region of the human PAX2 gene. Cell Growth Differ 5:1,015-1,021
18. Tavassoli K, Ruger W, Horst J (1997) Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus. Hum Genet 101:371-375
19. Heller N, Brandli AW (1997) Xenopus Pax-2 displays multiple splice forms during embryogenesis and pronephric kidney development. Mech Dev 69:83-104
20. McConnell MJ, Cunliffe HE, Chua LJ, Ward TA, Eccles MR (1997) Differential regulation of the human Wilms tumour suppressor gene (WT1) promoter by two isoforms of PAX2. Oncogene 14:2,689-2,701
21. Dorfler P, Busslinger M (1996) C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5), Pax-2 and Pax-8. EMBO J 15:1,971-1,982
22. Torres M, Gomez-Pardo E, Dressler G, Gruss P (1995) Pax-2 controls multiple steps of urogenital development. Development 121:4,057-4,065
23. Eccles MR, Wallis LJ, Fidler AE, Spurr NK, Goodfellow PJ, Reeve AE (1992) Expression of the PAX2 gene in human fetal kidney and Wilm's tumor. Cell Growth Differ 3:279-289
24. Groene H-J, Schwabe GC, Walther C, Gruss P (1993) Expression of develomental control genes Pax.2 and Pax8 in adult kidney and during regeneration of renal tubular epithelium. J Am Soc Nephrol 4:465
25. Fickenscher HR, Chalepakis G, Gruss P (1993) Murine Pax-2 protein is a sequence-specific trans-activator with expression in the genital system. DNA Cell Biol 12:381-391
26. Oefelein M, Grapey D, Schaeffer T, Chin-Chance C, Bushman W (1996) PAX-2: a developmental gene constitutively expressed in the mouse epididymis and ductus deferens. J Urol 156:1,204-1,207
27. Keller SA, Jones JM, Boyle A, Barrow LL, Killen PD, Green DG, Kapousta NV, Hitchchock PF, Swank RT, Meisler MH (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
28. 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in development defects of the brain, ear, eye. and kidney. Proc Natl Acad Sci USA 93:13,870-13.875
29. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, Eccles MR (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9:358-364
30. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 4:2,183-2,184
31. Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MM, Shim HH, Zhang Y-H, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR (1997) Further delineation of renal-coloboma syndrome in patients with remarkable variability of phenotype and identical PAX2 mutations. Am J Hum Genet 60:869-878
32. Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR (1998) The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 35:806-812
33. Schimmenti LA, Pierpont ME, Carpenter BLM, Kashtan CE, Johnson MR, Dobyns WB (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 59:204-208
34. Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M (1988) Optic nerve coloboma associated with renal disease. Am J Med Genet 29:597-605
35. Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL (1984) Vesicoureteric reflux: segregation analysis. Am J Med Genet 20:577-584
36. Bailey RR (1979) An overview of reflux nephropathy. In: Hodson J, Kincaid-Smith P (eds) Reflux nephropathy. Masson, New York, pp 3-13
37. Stephens FD, Lenaghan D (1962) Anatomical basis and dynamics of vesicoureteral reflux. J Urol 87:669-680
38. Choi K-L, Guilford PJ, McNoe LA, French MC, Eccles MR (1998) Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. J Med Genet 35:338-339
39. Gluecksohn-Schoenheimer S (1945) The embryonic development of mutants of the Sd-strain in mice. Genetics 30:29-38
40. Phelps DE, Dressler GR (1993) Aberrant expression of Pax-2 in Danforth's Short Tail (Sd) Mice. Dev Biol 157:251-258
41. Winyard PJD, Risdon RA, Sams VR, Dressler GR, Woolf AS (1996) The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J Clin Invest 98:451-459
42. Eng E, Wilson PD, Racusen LC, Burrowe CR (1994) Aberrant Pax-2 expression in human autosomal dominant polycystic kidney disease (ADPKD) epithelia (abstract). J Am Soc Nephrol 5:621
43. Feather SA, Winyard PJD, Dodd S, Woolf AS (1997) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease - clinical, radiological and histopathological features of a new kindred. Nephrol Dial Transplant 12: 1.354-1,361
44. Beckwith JB, Kiviat NB, Bonadio JF (1990) Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms tumor. Pediatr Pathol 10:1-35
45. Rothenpieler UW, Dressler GR (1993) Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 119:711-720
46. Gnarra JR, Dressler GR (1995) Expression of Pax-2 in human renal cell carcinoma and growth inhibition by antisense oligonucleotides. Cancer Res 55:4092-4098
47. Ryan G, Steele-Perkins V, Morris JF, Rauscher FJ III, Dressler G (1996) Repression of Pax-2 by WT1 during kidney development. Development 121:867-875
48. Dressler GR, Wilkison JE, Rothenpieler UW, Patterson LT, Williams-Simons L, Westphal H (1993) Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities. Nature 362:65-67
49. Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, Heyningen V van, Hastie ND (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86:71-82
50. Dressler GR, Douglass EC (1992) Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc Natl Acad Sci USA 89:1,179-1,183
51. Eccles MR, Yun K, Reeve AE, Fidler AE (1995) Comparative in situ hybridization analysis of PAX2, PAX8 and WT1 gene transcription in human fetal kidney and Wilms tumors. Am J Pathol 146:40-45
52. Dressler GR (1996) Pax-2, kidney development, and oncogenesis. Med Pediatr Oncol 27:440-444
53. Reddy JC, Licht JD (1996) The WT1 Wilm's tumor suppressor gene: how much do we really know? Biochem Biophys Acta 1287:1-28
54. Maulbecker CC, Gruss P (1993) The oncogenic potential of Pax genes. EMBO J 12:2.361-2,367
55. Liu SG, Cieslinski DA, Funke AJ, Humes HD (1997) Transforming growth factor-beta-1 regulates the expression of PAX2, a developmental control gene, in renal tubule cells. Exp Nephrol 5:295-300
56. Macdonald R, Barth KA, Xu Q, Holder N, Mikkola I, Wilson SW (1995) Midline signalling is required for Pax gene regulation and patterning of the eyes. Development 121:3,267-3.278
57. Stuart ET, Haffner R, Oren M, Gruss P (1995) Loss of p53 function through PAX-mediated transcriptional repression. EMBO J 14:5,638-5,645
58. Fraizer GC, Shimamura R, Zhang X, Saunders GF (1997) PAX8 regulates human WT1 transcription through a novel DNA binding site. J Biol Chem 272:30,678-30,687
59. Dehbi M, Ghahremani M, Lechner M, Dressler G, Pelletier J (1996) The paired-box transcription factor, PAX2, positively modulates expression of the Wilm's tumor suppressor gene (WT1). Oncogene 13:447-453
60. Song D-L, Chalepakis G, Gruss P, Joyner AL (1996) Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene. Development 122: 627-635
61. Phelps DE, Dressler GR (1996) Identification of novel Pax-2 binding sites by chromatin precipitation. J Biol Chem 271:7,978-7,985