The molecular biology of polycystic kidney disease

Pediatric Nephrology

Volumn 12, Issue 9, 1998, Pages 721-726

  Murcia, Noel S ^a   Woychik, Richard P ^a   Avner, Ellis D ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Autosomal recessive polycystic kidney disease; Epidermal growth factor receptor; orpk; PKD1; PKD2; Polycystic kidney disease; Polycystin; Tg737

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR;

ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; GENE CONTROL; GENE EXPRESSION SYSTEM; GENE ISOLATION; GENE MUTATION; HUMAN; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; MOLECULAR CLONING; MOLECULAR MODEL; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; HUMANS; MEMBRANE PROTEINS; MICE; POLYCYSTIC KIDNEY DISEASES; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR; TRPP CATION CHANNELS; TUMOR SUPPRESSOR PROTEINS;

EID: 0031790118     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050534     Document Type: Article

References (66)

1. Gabow PA (1993) Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342
2. Fick GM, Gabow PA (194) Heredity and acquired cystic disease of the kidney. Kidney Int 46:951-964
3. Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys: a follow-up of two-hundred and eight-four patients and their families. Acta Med Scand [Suppl] 328:1-255
4. Grantham JJ (1992) Polycystic kidney diseae. I. Etiology and pathogenesis. Hosp Pract (Off Ed) 27:51-59
5. Lippert MC (1991) Renal cystic disease.In: Gillenwater JY et al (eds) Adult pediatric urology. Mosby, Chicago, pp 711-743
6. Consortium TIPKD (1995) Polycystic kidney diseae: the complete structure of the PKD1 gene and its protein. Cell 81:289-298
7. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272:1339-1342
8. Almeida S de, Almeida E de, Peters D, Pinto JR, Tavora I, Lavinha J, Breuning M, Prata MM (1995) Autosomal dominant polycystic kidney diesease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88
9. Zerres K, Mucher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, Knapp M, Lennert T, Misselwitz J, Muhlendahl KE von et al. (1994) Mapping of the gene for autosomal recessive polycystic kdiney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7:429-432
10. Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W et al. (1995) The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet 56:1101-1107
11. Blyth H, Ockenden BG (1971) Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257-284
12. Kaplan BS, Fay J, Shah V, Dillon DJ, Barratt TM (1989) Autosomal recessive polycystic kidney disease. Pediatr Nephrol 3:43-49
13. Watkins SL, Avner ED (1994) Renal dysplasia and cystic disease. In: Holliday M, Barratt TM, Avner ED (eds) Pediatic nephrology. Williams and Wilkins, Baltimore, pp 467-490
14. Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 264:1329-1333
15. Mucher G, Becker J, Knapp M, Buttner R, Moser M, RudnikSchoneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L. Zerres K (1998) Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MCM, RDS, CKII-beta, GSTA1, a 6p21.1-p12. Genomics (in press)
16. Avner ED (1993) Epithelial polarity and differentiation in polycystic kidney disease. J Cell Sci [Suppl] 17:217-222
17. Richards WG, Sweeney WE, Yoder BK, Wilkinson JE, Woychik RP, Avner ED (1998) Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease. J Clin Invest (in press)
18. Du J, Wilson PD (1995) Abnormal polarization of EGF receptors and autocrine stimulation of cyst epithelial growth in human ADPKD. Am J Physiol 269:C487-495
19. Consortium TEPKD (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894
20. Moy GW, Mendoza LM, Schulz JR, Swanson JR, Glabe CG, Vacquire VD (1996) The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J Cell Biol 133:809-817
21. Parnell SC, Calvet JP (1997) Phosphorylation of the PKD1 protein, polycystin-1. J Am Soc Nephrol 8:378A
22. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG (1997) PKD1 interacts with PKD2 through a propable coiledcoil domain. Nat Genet 16:179-183
23. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (1997) Homoand heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94: 6965-6970
24. Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC (1997) Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Hum Genet 60: 1399-1410
25. Peral B, San Millan JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC (1996) Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 58:86-96
26. Peral B, Gamble V, San Millan JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 4:569-574
27. Peral B, Ong AC, San Millan JL, Gamble V, Rees L, Harris PC (1996) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5:539-542
28. Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschino G, Pignatti PF (1995) A novel nonsense mutation in th PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 4:1331-1335
29. Watnick TJ, Piontek KB, Cordai TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HPH. Germino GG (1997) An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum Mol Genet 6:1473-1481
30. Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87:979-987
31. Brasier JL, Henske EP (1997) Loss of the polycystic kidney disease (PKD1) region on chromosome 16p13 in renal cysts supports a loss-of-function model for cyst pathogenesis. J Clin Invest 99:194-199
32. Veidhuisen B, Saris JJ, Haij S de, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, Dijk MA van, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJM (1997) A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61:547-555
33. Goebl M, Yanagida M (1991) The TPR snap helix: a novel protein repeat motif from mitosis to transcription. Trends Biochem Sci 16:173-177
34. Lamb JR, Michaud WA, Sikorski RA, Hieter PA (1994) Cdc 16p, Cdc23p and Cdc27p form a complex essential for mitosis. EMBO J 13:4321-4328
35. Brocard C, Kragler F, Simon MM, Schuster T, Hartig A (1994) The tetratricopeptide repeat-domain of the PAS10 protein of Saccharomyces cerevisiae is essential for binding the peroxisomal targeting signal-SKL. Biochem Biophys Res Commun 204:1016-1022
36. McCollum D, Monosov E, Subramani S (1993) The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein impact deficiencies of Zellweger syndrome cells - the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family. J Cell Biol 121:761-774
37. Van der Leij I, Franse MM, Elgersma Y, Distel B, Tabak HF (1993) PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae. Proc Natl Acad Sci USA 90:11782-11786
38. Moczko M, Ehmann B, Gartner F, Honlinger A, Schafer E, Pfanner N (1994) Deletion of the receptor MOM19 strongly impairs import of cleavable preproteins into Saccharomyces cerevisiae mitochondria. J Biol Chem 269:9045-9051
39. Zhang K, Smouse D, Perrimon N (1991) The crooked neck gene of Drosophila contains a motif found in a family of yeast cell cycle genes. Genes Dev 5:1080-1091
40. Becker W, Kentrup H, Klumpp S, Schultz JE, Joost HG (1994) Molecular cloning of a protein serine/threonine phosphatase containing a putative regulatory tetratricopeptide repeat domain. J Biol Chem 269:22586-22592
41. Mirabito PM, Morris NR (1993) BIMA, a TPR-containing protein required for mitosis, localizes to the spindle pole body in Aspergillus nidulans. J Cell Biol 120.959-968
42. Schrick JJ, Onuchic LF, Reeders ST, Kornberg J, Chen XN, Moyer JH, Wilkinson JE, Woychik RP (1995) Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene. Hum Mol Genet 4:559-567
43. Yoder BK, Wilkinson JE, Avner ED, Woychik RP (1997) The Tg737 protein interacts with polycystin and proteins controlling epithelial polarity, EGFR stability and cellular differentiation. J Am Soc Nephrol 8:386A
44. 1(E)-catenin is an actin-binding and -bundling protein mediating the attachment of F-actin to the membrane adhesion complex. Proc Natl Acad Sci USA 92:8813-8817
45. Jou T, Stewart DB, Stappert J, Nelson WJ, Marrs JA (1995) Genetic and biochemical dissection of protein linkages in the cadherin-catenin complex. Proc Natl Acad Sci USA 92: 5067-5071
46. Kurten RC, Cadena DL, Gill GN (1996) Enhanced degradation of EGF receptors by a sorting nexin, SNX1. Science 272:1008-1010
47. Nagy P, Bisgaard HC, Thorgeirsson SS (1994) Expression of hepatic transcription factors during liver development and oval cell differentiation. J Cell Biol 126:223-233
48. Harding MA, Gattone VH, Grantham JJ, Calvet JP (1992) Localization of overexpressed c-myc mRNA in polycytic kidney of the cpk mouse. Kidney Int 41:317-325
49. Haverty TP, Neilson EG (1988) Basement membrane gene expression in polycystic kidney disease. Lab Invest 58:245-248
50. Cowley BD, Chadwick LJ, Grantham JJ, Calvet JP (1991) Elevated proto-oncogene expression in polycystic kidneys of the C57BL/6J (cpk) mouse. J Am Soc Nephrol 1:1048-1053
51. Ebihara I, Killen PD, Laurie GW, Huang T, Yamada Y, Martin GR, Brown KS (1988) Altered mRNA expression of basement membrane components in a murine model of polycystic kidney disease. Lab Invest 58:262-269
52. Rankin CA, Grantham JJ, Calvet JP (1992) C-fos expression is hypersensitive to serum-stimulation in cultured cystic kidney cells from the C57BL/6J-cpk mouse. J Cell Physiol 152: 578-586
53. Cowley BDJ, Smardo FLJ, Grantham JJ, Calvet JP (1987) Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease. Proc Natl Acad Sci USA 84:8394-8398
54. Milutinovic J, Agodoa LC, Cutler RE, Striker GE (1980) Autosomal dominant polycystic kidney disease. Early diagnosis and consideration of pathogenesis. Am J Clin Pathol 73: 740-747
55. Carone FA, Nakamura S, Bacallao R, Nelson WJ, Khokha M, Kanwar YS (1995) Impaired tubulogenesis of cyst-derived cells from autosomal dominant polycystic kidneys. Kidney Int 47:861-868
56. Wilson PD, Sherwood AC (1991) Tubulocystic epithelium. Kidney Int 39:450-463
57. Avner ED (1995) Role of growth factors in cell proliferation. Kidney Int 47:719-720
58. Avner ED, Sweeney WE (1995) Apical epidermal growth factor receptor expression defines a distinct cystic tubular epithelial phenotype in autosomal recessive polycystic kidney disease. Pediatr Res 37:359A
59. Wilson PD, Du J, Norman JT (1993) Autocrine. endocrine and paracrine regulation of growth abnormalities in autosomal dominant polycystic kidney disease. Eur J Cell Biol 61: 131-138
60. Orellana SA, Sweeney WE, Neff CD, Avner ED (1995) Epidermal growth factor receptor expression is abnormal in murine polycystic kidney. Kidney Int 47:490-499
61. Horikoshi S, Kubota S, Martin GR, Yamada Y, Klotman PE (1991) Epidermal growth factor (EGF) expression in the congenital polycystic mouse kidney. Kidney Int 39:57-62
62. Gattone VH, Andrews GK, Niu FW, Chadwick LJ, Klein RM, Calvet JP (1990) Defective epidermal growth factor gene expression in mice with polycystic kidney disease. Dev Biol 138:225-230
63. Ogborn MR, Sareen S (1996) Transforming growth factor alpha and epidermal growth factor expression in experimental murine polycystic kidney disease. Pediatr Nephrol 10: 181-184
64. Orellana S, Avner ED (1995) Cystic maldevelopment of the kidney. Semin Nephrol 15:341-352
65. Fowler KJ, Walker F, Alexander W, Hibbs ML, Nice EC, Bohmer RM, Mann GB, Thumwood C, Maglitto R, Danks JA, Chetty R. Burgess AE, Dunn AR (1995) A mutation in the epidermal growth factor receptor in waved-2 mice has a profound effect on receptor biochemistry that results in impaired lactation. Proc Natl Acad Sci USA 92:1465-1469
66. Pugh JL, Sweeney WE, Avner ED (1995) Tyrosine kinase activity of the EGF receptor in murine metanephric organ culture. Kidney Int 47:774-781