Molecular biology of autosomal dominant polycystic kidney disease

Fetal and Pediatric Pathology

Volumn 18, Issue 6, 1998, Pages 483-499

  Trudel, Marie ^a   Guillaume, Richard ^a  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

Author keywords

epithelium; kidney; Pkd1; Pkd2; polycystic kidney disease; renal development; review

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ALPHA TOXIN; ARACHIDONATE 15 LIPOXYGENASE; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; LIPOXYGENASE; POLYCYSTIN; PROTEIN; RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRIACYLGLYCEROL LIPASE;

APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; KIDNEY POLYCYSTIC DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE;

EID: 0032231453     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.1080/15513819809168803     Document Type: Article

References (80)

1. Michaud J, Russo P, Grignon A, Dallaire L, Bichet D, Rosenblatt D, Lamothe E, Lambert M. Autosomal dominant polycystic kidney disease in the fetus. Am J Med Genet 1994;51:240-246. (Pubitemid 24184459)
2. Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994;46:951-964. (Pubitemid 24319931)
3. Nadasdy T, Laszik Z, Lajoie G, Blick KE, Wheeler DE, Silva FG. Proliferative activity of cyst epithelium in human renal cystic diseases. J Am Soc Nephrol 1995;5:1462-1468.
4. Lanoix J, D'Agati V, Szabolcs M, Trudel M. Dysregulation of cellular proliferation and apoptosis mediates human autosomal dominant polycystic kidney disease (ADPKD). Oncogene 1996;13:1153-1160. (Pubitemid 26343568)
5. -ATPase: Mislocation to apical plasma membrane. Am J Physiol 1991;260:F420-F430.
6. Brill SR, Ross KE, Davidow CJ, Ye M, Grantham JJ, Caplan MJ. Immunolocalization of ion transport proteins in human autosomal dominant polycystic kidney epithelial cells. Proc Natl Acad Sci USA 1996;93:10206-10211. (Pubitemid 26314600)
7. Grantham JJ. Polycystic kidney disease: Neoplasm in disguise. Am J Kidney Dis 1990;XV:110-116.
8. Woo D. Apoptosis and loss of renal tissue in polycystic kidney diseases. N Eng J Med 1995;333:18-25.
9. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985;317:542-544. (Pubitemid 16224163)
10. Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, Van Eijk R, Norby S, Constantinou-Deltas CD, Pierides A, Brissenden JE, Frants RR, Van Ommen GJB, Breuning MH. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 1993;5:359-362. (Pubitemid 23351306)
11. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4ql3-q23. Genomics 1993;18:467-472. (Pubitemid 24021060)
12. Daoust M, Reynolds D, Bichet DG, Somlo S. Evidence for a third Genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995;25:733-736.
13. Hateboer N, van Dijk MA, Bogdanova N, Coton E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 study group. Lancet 1999;353:103-107. (Pubitemid 29088079)
14. Consortium EPKD. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-1315.
15. Consortium EPKD. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994;77:881-894.
16. Burn TC, Connors TD, Dackowski WR, Petry LR, Van Raay TJ, Millholland JM, Venet M, Miller G, Hakim RM, Landes GM, Klinger KW, Qian F, Onuchic LF, Watnick T, Germino GG, Doggett NA. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 1995;4:575-582.
17. Consortium IPKD. Polycystic Kidney Disease: The complete structure of the PKD1 gene and its protein. Cell 1995;81:289-298.
18. Bateman A, Sandford R. The PLAT domain: a new piece in the PKD1 puzzle. Curr Biol 1999;9:R588-R590.
19. van Tilbeurgh H, Egloff MP, Martinez C, Rugani N, Verger R, Cambillau C. Interfacial activation of the lipase-procolipase complex by mixed micelles revealed by X-ray crystallography. Nature 1993;362:814-820. (Pubitemid 23132155)
20. Gillmor SA, Villasenor A, Fletterick R, Sigal E, Browner MF. The structure of mammalian 15-lipoxygenase reveals similarity to the lipases and the determinants of substrate specificity. Nat Struct Biol 1998;4:1003-1009.
21. Naylor CE, Eaton JT, Howells A, Justin N, Moss DS, Titball RW, Basak AK. Structure of the key toxin in gas gangrene. Nat Struct Biol 1998;5:738-746. (Pubitemid 28359811)
22. Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJM, Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-1342. (Pubitemid 26199975)
23. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 1997;16:179-183. (Pubitemid 27240617)
24. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G. Homo-and heterodimeric interactions between the gene product of PKD1 and PKD2. Proc Natl Acad Sci USA 1997;94:6965-6970. (Pubitemid 27281974)
25. Kim E, Arnould T, Sellin L, Benzin GT, Cornelia N, Kocher O, Tsiokas L, Sukhatme VP, Walz G. Interaction between RGS7 and polycystin. Proc Natl Acad Sci USA 1999;96:6371-6376. (Pubitemid 29256672)
26. Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Siljatme VP. Specific association of the gene product of PKD2 with the TRPPC1 channel. Proc Natl Acad Sci USA 1999;96:3934-3939. (Pubitemid 29169014)
27. Peral B, Gamble V, San Millan JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 1995;4:569-574.
28. Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF. A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 1995;4:1331-1335.
29. Peral B, Ong ACM, San Millan JL, Gamble V, Rees L, Harris PC. A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 1996;5:539-542. (Pubitemid 26101151)
30. Peral B, San Millan JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC. Screening the 3' region of the Polycystic Kidney Disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 1996;58:86-96.
31. Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC. Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD 1. Hum Genet 1998;103:709-717. (Pubitemid 29020769)
32. Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD 1, by long-range PCR. Am J Hum Genet 1999;65:39-49. (Pubitemid 30470447)
33. Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 1994;8:328-332. (Pubitemid 24375596)
34. Pei Y, He N, Kasenda M, Wang KR, Paterson A, Liang Y, Chan G, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St. George-Hyslop P. A spectrum of mutations in the polycystic kidney disease 2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol 1998;9:1853-1860. (Pubitemid 28443482)
35. Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St. George-Hyslop P. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int 1998;53:1127-1132. (Pubitemid 28316872)
36. Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Norby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJM. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997;61:547-555. (Pubitemid 27418396)
37. Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millan JL. Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 1997;101:229-234. (Pubitemid 28014739)
38. Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC. A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2). Hum Mol Genet 1997;6:949-952. (Pubitemid 27239082)
39. Ward CJ, Turley H, Ong ACM, Comley M, Biddolph S, Chetty R, Ratcliffe PJ, Gatter K, Harris PC. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult and polycystic kidney. Proc Natl Acad Sci USA 1996;93:1524-1528. (Pubitemid 26075157)
40. Geng L, Segal Y, Peissel B, Deng N, Pei Y, Carone F, Rennke HG, Gliicksmann-Kuis AM, Schneider MC, Ericsson M, Reeders ST, Zhou J. Identification and localization of polycystin, the PKD1 gene product. J Clin Invest 1996;98:2674-2682. (Pubitemid 26427391)
41. Ibraghimov-Beskrovnaya O, Dackowski WR, Foggensteiner L, Coleman N, Thiru S, Petry LR, Burn TC, Connors TD, Van Raay T, Bradley J, Qian F, Onuchic LF, Watnick TJ, Piontek K, Hakim RM, Landes GM, Germino GG, Sandford R, Klinger KW. Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc Natl Acad Sci USA 1997;94:6397-6402. (Pubitemid 27270696)
42. Van Adelsberg J, Chamberlain S, D'Agati V. Polycystin expression is temporally and spatially regulated during renal development. Am J Physiol 1997;272:F602-F609.
43. Peters DJM, Spruit L, Klingel R, Prins F, Baelde HJJ, Giordano PC, Bernini LF, de Heer E, Breuning MH, Bruijn JA. Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product. Lab Invest 1996;75:221-230. (Pubitemid 26272360)
44. Paulson R, Sharma CP, Kim K, McLaughlin M, Brown D, Arnaout MA. Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1. Mol Med 1996;2:702-711. (Pubitemid 27020767)
45. Ong ACM, Ward CJ, Butler RJ, Biddolph S, Bowker C, Torra R, Pei Y, Harris PC. Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. Am J Pathol 1999;154:1721-1729. (Pubitemid 29262854)
46. Reeders ST. Multilocus polycystic disease. Nat Genet 1992;1:235-237.
47. Qian F, Watnick TJ, Onuchic LF, Germino GG. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 1996;87:979-987. (Pubitemid 26427982)
48. Brasier JL, Henske EP. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J Clin Invest 1997;99:194-199. (Pubitemid 27053988)
49. Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Deltas C. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 1999;8:509-513. (Pubitemid 29097339)
50. Guillaume R, D'Agati V, Daoust M, Trudel M. Murine Pkdl is a developmentally regulated gene from morula to adulthood: Role in tissue condensation and patterning. Dev Dyn 1999;214:337-348. (Pubitemid 29160210)
51. Geng L, Segal Y, Pavlova A, Barros EJG, Löhning C, Lu W, Nigam SK, Frischauf A-M, Reeders ST, Zhou J. Distribution and developmentally regulated expression of murine polycystin. Am J Physiol 1997;272:F451-F459. (Pubitemid 127823171)
52. Griffin MD, O'Sullivan DA, Torres VE, Grande JP, Kanwar YS, Kumar R. Expression of polycystin in mouse metanephros and extra-metanephric tissues. Kidney Int 1997;52:1196-1205. (Pubitemid 27496048)
53. Van Adelsberg J. Peptides from the PKD repeats of polycystin, the PKD1 gene product, modulate pattern formation in the developing kidney. Dev Gen 1999;24:299-308. (Pubitemid 29211794)
54. Markowitz GS, Cai Y, Li L, Wu G, Ward L, Somlo S, D'Agati V. Polycystin-2 expression is developmentally regulated. Am J Physiol (Renal Physiol) 1999;46:F17-F25. (Pubitemid 29352670)
55. Lu W, Peissel B, Babkhanlou H, Pavlova A, Geng L, Fan X, Larson C, Brent G, Zhou J. Perinatal lethality with kidney and pancreas defects in mice with a targetted PKD1 mutation. Nat Genet 1997;17:179-181.
56. Fan X, Lu W, Reeders ST, Zhou J. Enhanced apoptosis in Pkdl targeted mice. J Am Soc Nephrol 1998;9:#1900 (abstract).
57. Lu W, Fan X, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG, Zhou J. Late onset of renal and hepatic cysts in Pkdltargeted heterozygotes. Nat Genet 1999;21:160-161. (Pubitemid 29070359)
58. Wu Q, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou JR H, Kucherlapati R, Edelrnann W, Somlo S. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 1998;93:177-188. (Pubitemid 28180852)
59. Baylis C, Brenner BM. Mechanism of the glucocorticoid-induced increase in glomerular filtration rate. Am J Physiol 1978;234:F166-F170. (Pubitemid 9158672)
60. Perey DYE, Herdman RC, Good RA. Polycystic renal disease. A new experimental model. Science 1967;158:494-496.
61. Preminger GM, Koch WE, Fried FA, McFarland E, Murphy ED, Mandell J. Murine congenital polycystic kidney disease: A model for studying development of cystic disease. J Urol 1982;127:556-560. (Pubitemid 12147655)
62. Nidess R, Koch WE, Fried FA, McFarland E, Mandell J. Development of the embryonic murine kidney in normal and congenital polycystic kidney disease: Characterization of a proximal tubular degenerative process as the first observable light microscopic defect. J Urol 1984;131:156-162. (Pubitemid 14217027)
63. Cowley BD, Smardo FL, Grantham JJ, Calvet JP. Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease. Proc Natl Acad Sci USA 1987;84:8394-8398.
64. Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NLA, Wilkinson JE, Woychik RP. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 1994;264:1329-1333. (Pubitemid 24219084)
65. Veis DJ, Sorenson CM, Shutter JR, Korsmeyer SJ. Bcl-2-deficient mice demonstrate fulminant lymphoid apoptosis, polycystic kidneys, and hypopigmented hair. Cell 1993;75:229-240. (Pubitemid 23320287)
66. Nakayama K, Nakayama KI, Negishi I, Kuida K, Sawa H, Loh DY. Targeted disruption of bcl-2ab in mice: occurrence of gray hair, polycystic kidney disease, and lymphocytopenia. Proc Natl Acad Sci USA 1994;91:3700-3704.
67. Kamada S, Shimono A, Shinto Y, Tsujimura T, Takahashi T, Noda T, Kitamura Y, Kondoh H, Tsujimoto Y. bcl-2 deficiency in mice leads to pleiotropic abnormalities: accelerated lymphoid cell death in thymus and spleen, polycystic kidney, hair hypopigmentation and distorted small intestine. Cancer Res 1995;55:354-359.
68. Sorenson CM, Rogers SA, Korsmeyer SJ, Hammerman MR. Fulminant metanephric apoptosis and abnormal kidney development in bcl-2-deficient mice. Am J Physiol 1995;37:F73-F81. (Pubitemid 124005462)
69. Janaswami PM, Birkenmeier EH, Cook SA, Rowe LB, Bronson RT, Davisson MT. Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics 1997;40:101-107. (Pubitemid 27108253)
70. Takahashi H, Ueyama Y, Hibino T, Kuwahara Y, Suzuki S, Hioki K, Tamaoki N. A new mouse model of genetically transmitted polycystic kidney disease. J Urol 1986;135:1280-1283. (Pubitemid 16095895)
71. Ogborn MR, Sareen S, Pinette B. Cilazapril delay progression of hypertension and uremia in rat polycystic kidney disease. Am J Kidney Dis 1995;26:942-946.
72. Brinster RL, Chen HY, Messing A, Van Dyke T, Levine A, Palmiter RD. Transgenic mice harboring SV40 T-antigen genes develop characteristic brain tumors. Cell 1984;37:367-379. (Pubitemid 14079032)
73. McKay K, Striker LJ, Pinkert CA, Brinster RL, Striker GE. Glomerulosclerosis and renal cysts in mice transgenic for the early region of SV40. Kidney Int 1987;32:827-837. (Pubitemid 18015513)
74. Schaffner DL, Barrios R, Massey C, Banez EI, Ou C-N, Rajagopalan S, Aguilar-Cordova E, Lebovitz RM, Overbeek PA, Lieberman MW. Targeting of the rasT24 oncogene to the proximal convoluted tubules in transgenic mice results in hyperplasia and polycystic kidneys. Am J Pathol 1993;142:1051-1060. (Pubitemid 24060581)
75. Trudel M, D'Agati V, Costantini F. C-myc as an inducer of polycystic kidney disease in transgenic mice. Kidney Int 1991;39:665-671.
76. Trudel M, D'Agati V. A model of polycystic kidney disease in SBM transgenic mice. In: Contribution to nephrology: Polycystic kidney disease. Ed: Berlyne GM Contrib. Nephrol., Karger S, Basel, Brooklyn, NY, 1992;97:47-59.
77. Trudel M, Barisoni L, Lanoix J, D'Agati V. Polycystic Kidney Disease in SBM Transgenic Mice: Role of c-myc in Disease Induction and Progression. Am J Pathol 1998;152:219-229. (Pubitemid 28028062)
78. Trudel M, Lanoix J, Barisoni J, Blouin M-J, Desfbrges M, L'ltalien C, D'Agati V. C-MYC-induced Apoptosis in Polycystic Kidney Disease is Bcl-2 and p53 Independent. J Exp Med 1997;186:1873-1884. (Pubitemid 27524597)
79. Barisoni L, Trudel M, Chretien N, Ward L, Adelsberg JV, D'Agati V. Analysis of the role of membrane polarity in polycystic kidney disease of transgenic SBM mice. Am J Pathol 1995;147:1728-1735.
80. Trudel M, Chretien N, D'Agati V. Disappearance of polycystic kidney disease in revertant c-myc transgenic mice. Mamm Genome 1994;5:149-152. (Pubitemid 2077942)