Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease

Developmental Biology

Volumn 219, Issue 2, 2000, Pages 250-258

  Ostrom, Lance ^a   Tang, Ming Jer ^b   Gruss, Peter ^c   Dressler, Gregory R ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^c MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

Author keywords

Apoptosis; cpk; Pax2; Polycystic kidney

Indexed keywords

TRANSCRIPTION FACTOR;

ALLELE; ANIMAL CELL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CELL DEATH; CELL PROLIFERATION; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE EXPRESSION; GROWTH INHIBITION; KIDNEY CELL; KIDNEY DEVELOPMENT; KIDNEY POLYCYSTIC DISEASE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL;

ANIMALIA; MURINAE;

EID: 0034642988     PISSN: 00121606     EISSN: None     Source Type: Journal    
DOI: 10.1006/dbio.2000.9618     Document Type: Article

References (42)

1. Avner E. D., Studnicki F. E., Young M. C., Sweeney W. E. Jr., Piesco N. P., Ellis D., Fetterman G. H. Congenital murine polycystic kidney disease. I. The ontogeny of tubular cyst formation. Pediatr. Nephrol. 1:1987;587-596.
2. Calvet J. P. Polycystic kidney disease: Primary extracellular matrix abnormality or defective cellular differentiation. Kidney Int. 43:1993;101-108.
3. Calvet J. P. Molecular genetics of polycystic kidney disease. J. Nephrol. 11:1998;24-34.
4. Cho E. A., Patterson L. T., Brookhiser W. T., Mah S., Kintner C., Dressler G. R. Differential expression and function of cadherin-6 during renal epithelium development. Development. 125:1998;4806-4815.
5. Coles H. S. R., Burne J. F., Raf M. C. Large-scale normal cell death in the developing rat kidney and its reduction by epidermal grown factor. Development. 118:1993;777-784.
6. Dietrich S., Gruss P. undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures. Dev. Biol. 167:1995;529-548.
7. Dressler G. R., Douglass E. C. Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. Proc. Natl. Acad. Sci. USA. 89:1992;1179-1183.
8. Dressler G. R., Wilkinson J. E., Rothenpieler U. W., Patterson L. T., Williams-Simons L., Westphal H. Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities. Nature. 362:1993;65-67.
9. Eccles M. R., Wallis L. J., Fidler A. E., Spur N. K., Goodfellow P. J., Reeve A. E. Expression of the Pax2 gene in human fetal kidney and Wilms' tumor. Cell Growth Differ. 3:1992;279-289.
10. Eng E., Wilson P. D., Racusen L. C., Burrowe C. R. Aberrant Pax-2 expression in human autosomal dominant polycystic kidney disease (ADPKD) epithelial. J. Am. Soc. Nephrol. 5:1994;621.
11. Cell. 77:1994;881-894.
12. Gattone V. H. 2nd, Calvet J. P., Cowley B. D. Jr., Evan A. P., Shaver T. S., Helmstadter K., Grantham J. J. Autosomal recessive polycystic kidney disease in a murine model. A gross and microscopic description. Lab. Invest. 59:1988;231-238.
13. Gattone V. H. 2nd, MacNaughton K. A., Kraybill A. L. Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene. Anat. Rec. 245:1996;488-499.
14. Gnarra J. R., Dressler G. R. Expression of Pax-2 in human renal cell carcinoma and growth inhibition by antisense oligonucleotides. Cancer Res. 55:1995;4092-4098.
15. Hanson I., van Heyningen V. Pax6: More than meets the eye. Trends Genet. 11:1995;268-272.
16. Harlow E., Lane D. Antibodies: A Laboratory Manual. 1988;Cold Spring Harbor Laboratory Press, Cold Spring Harbor. p. 363-420.
17. Hockenbery D., Nunez G., Milliman C., Schreiber R. D., Korsmeyer S. J. Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature. 348:1990;334-336.
18. Iakoubova O. A., Dushkin H., Beier D. R. Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics. 26:1995;107-114.
19. Iakoubova O. A., Dushkin H., Beier D. R. Genetic analysis of a quantitative trait in a mouse model of polycystic kidney disease. Am. J. Respir. Crit. Care Med. 156:1997;S72-77.
20. 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., Meisler M. H. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 23:1994;309-320.
21. Mochizuki T., Wu G., Hayashi T., Xenophontos S. L., Veldhuisen B., Saris J. J., Reynolds D. M., Cai Y., Gabow P. A., Pierides A., Kimberling W. J., Breuning M. H., Deltas C. C., Peters D. J., Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 272:1996;1339-1342.
22. Nagao S., Koyama Y., Takahashi H. Specific changes in the basement membrane of the proximal tubules in the murine polycystic kidney detected by the novel anti-basement membrane monoclonal antibody D28. Jikken Dobutsu. 43:1994;511-519.
23. Ojeda J. L. Abnormal tenascin expression in murine autosomal recessive polycystic kidneys. Nephron. 82:1999;261-269.
24. Orellana S. A., Sweeney W. E., Neff C. D., Avner E. D. Epidermal growth factor receptor expression is abnormal in murine polycystic kidney. Kidney Int. 47:1995;490-499.
25. Qian F., Germino F. J., Cai Y., Zhang X., Somlo S., Germino G. G. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat. Genet. 16:1997;179-183.
26. Rocco M. V., Neilson E. G., Hoyer J. R., Ziyadeh F. N. Attenuated expression of epithelial cell adhesion molecules in murine polycystic kidney disease. Am. J. Physiol. 262:1992;F679-686.
27. Rothenpieler U. W., Dressler G. R. Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development. 119:1993;711-720.
28. Ryan G., Steele-Perkins V., Morris J., Rauscher F. J. III, Dressler G. R. Repression of Pax-2 by WT1 during normal kidney development. Development. 121:1995;867-875.
29. Sanyanusin P., McNoe L. A., Sullivan M. J., Weaver R. G., Eccles M. R. Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum. Mol. Genet. 4:1995a;2183-2184.
30. Sanyanusin P., Schimmenti L. A., McNoe L. A., Ward T. A., Pierpont M. E. M., Sullivan M. J., Dobyns W. B., Eccles M. R. Mutation of the Pax2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat. Genet. 9:1995b;358-364.
31. Schieren G., Pey R., Bach J., Hafner M., Gretz N. Murine models of polycystic kidney disease. Nephrol. Dial. Transplant. 11:1996;38-45.
32. Schimmenti L. A., Pierpont M. E., Carpenter B. L., Kashtan C. E., Johnson M. R., Dobyns W. B. Autosomal dominant optic nerve colobomas, vesicoureteric reflux and renal anomalies. Am. J. Med. Genet. 59:1995;204-208.
33. Simon E. A., Cook S., Davisson M. T., D'Eustachio P., Guay-Woodford L. M. The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2. Genomics. 21:1994;415-418.
34. Sorenson C. M., Rogers S. A., Korsmeyer S. J., Hammerman M. R. Fulminant metanephric apoptosis and abnormal kidney development in bcl-2-deficient mice. Am. J. Physiol. 268:1995;F73-81.
35. Stuart E. T., Haffner R., Oren M., Gruss P. Loss of p53 function through PAX-mediated transcriptional repression. EMBO J. 14:1995;5638-5645.
36. Taub M., Laurie G. W., Martin G. R., Kleinman H. K. Altered basement membrane protein biosynthesis by primary cultures of cpk/cpk mouse kidney. Kidney Int. 37:1990;1090-1097.
37. Theiler K., Varnum D. S., Stevens L. C. Development of Dickie's small eye, a mutation in the house mouse. Anat. Embryol. (Berlin). 155:1978;81-86.
38. Torres M., Gomez-Pardo E., Dressler G. R., Gruss P. Pax-2 controls multiple steps of urogenital development. Development. 121:1995;4057-4065.
39. Upadhya P., Churchill G., Birkenmeier E. H., Barker J. E., Frankel W. N. Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants. Genomics. 58:1999;129-137.
40. Wallin J., Eibel H., Neubuser A., Wilting J., Koseki H., Balling R. Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation. Development. 122:1996;23-30.
41. Winyard P. J. D., Nauta J., Lirenman D. S., Hardman P., Sams V. R., Risdon A. R., Woolf A. S. Deregulation of cell survival in cystic and dysplastic renal development. Kidney Int. 49:1996a;135-146.
42. Winyard P. J. D., Risdon R. A., Sams V. R., Dressler G. R., Woolf A. S. The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations. J. Clin. Invest. 98:1996b;451-459.