Autosomal dominant polycystic kidney disease - Clinical and genetic aspects

Kidney and Blood Pressure Research

Volumn 25, Issue 5, 2002, Pages 265-283

  Bogdanova, Nadja ^a   Markoff, Arseni ^b   Horst, Jürgen ^a,b  

^a Institut für Humangenetik   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

2,8 Dihydroxyadenine; ADPKD; Creatinine; Diagnostics; Genetics; Methylguanidine; Oxidative stress; Pathogenesis; Proximal tubular injury; Review; Treatment

Indexed keywords

ISOPROTEIN; POLYCYSTIN 1; POLYCYSTIN 2; UNCLASSIFIED DRUG;

APOPTOSIS; AUTOSOMAL DOMINANT DISORDER; BRAIN ARTERY ANEURYSM; CELL POLARITY; CELL PROLIFERATION; CELL SECRETION; ECHOGRAPHY; EPIDEMIOLOGICAL DATA; EXON; EXTRACELLULAR MATRIX; GASTROINTESTINAL DISEASE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY LOSS; HUMAN; HYPERTENSION; INTESTINE DIVERTICULOSIS; KIDNEY CYST; KIDNEY EXAMINATION; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; LIVER CYST; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MOTIF; REVIEW; SOCIOECONOMICS; SYSTEMIC DISEASE; VALVULAR HEART DISEASE; ANIMAL; CARDIOVASCULAR DISEASE; CYST; GENETICS; INCIDENCE; KIDNEY DISEASE; LIVER DISEASE;

ANIMALS; CARDIOVASCULAR DISEASES; CYSTS; GASTROINTESTINAL DISEASES; HUMANS; INCIDENCE; KIDNEY DISEASES; LIVER DISEASES; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT;

EID: 0036435487     PISSN: 14204096     EISSN: None     Source Type: Journal    
DOI: 10.1159/000066788     Document Type: Review

References (145)

1. Gabow PA: Autosomal dominant polycystic kidney disease. N Engl J Med 1993;329:332-342.
2. Gregoire JR, Torres VE, Holley KE, Farrow GM: Renal epithelial hyperplastic and neoplastic proliferation in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1987;9:27-38.
3. Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco Johnson M, Lezotte DC, Schrier RW: The clinical utility of renal concentrating capacity in polycystic kidney disease. Kidney Int 1989;35:675-680.
4. Bell PE, Hossack KF, Gabow PA, Durr JA, Johnson AM, Schrier RW: Hypertension in autosomal dominant polycystic kidney disease. Kidney Int 1988;34:683-690.
5. Wolf G, Neilson EG: Angiotensin II as a hypertrophogenic cytokine for proximal tubular cells. Kidney Int 1993;35(suppl):100-107.
6. Gabow PA, Johnson AM, Kaeny WD, Kimberling WJ, Lezotte DC, Duley IT, Jones RH: Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 1992;41:1311-1319.
7. Hateboer N, van Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D: Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999;353:103-107.
8. Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millan JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D: Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int 2000;57:1444-1451.
9. Milutinovic J, Rust PF, Fialkow PJ, Agodoa LY, Phillips LA, Rudd TG, Sutherland S: Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease. Am J Kidney Dis 1992;19:465-472.
10. Fick GM, Johnson AM, Gabow PA: Is there evidence for anticipation in autosomal dominant polycystic kidney disease? Kidney Int 1994;45:1153-1162.
11. Zerres K, Rudnik-Scoeneborn S: On genetic heterogeneity, anticipation and imprinting in polycystic kidney disease. Nephrol Dial Transplant 1995;10:7-9.
12. Geberth S, Stier E, Zier M, Mayer G, Ranbausek M, Ritz E: More adverse renal prognosis of autosomal dominant polycystic kidney disease in families with primary hypertension. J Am Soc Nephrol 1995;6:1643-1648.
13. Gonzalo A, Gallego A, Ortuno J: Proteinuria and hypertension in autosomal dominant polycystic kidney disease. Nephron 1996;73:359.
14. Klag MJ, Whelton PK, Randell MS, Neaton JD, Brangati FL, Ford CE, Shulman NB, Stamler J: Blood pressure and end-stage renal disease in men. N Engl J Med 1996;334:13-18.
15. Gretz N, Zeier M, Geberth S, Strauch M, Ritz E: Is gender a determinant for evolution of renal failure? A study in autosomal dominant polycystic kidney disease. Am J Kidney Dis 1989:14:178-183.
16. Chapman AB, Johnson A, Gabow PA: Pregnancy outcome and its relationship to progression of kidney failure in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994;5:1178-1185.
17. Chapman AB, Johnson A, Gabow PA, Schrier RW: Overt proteinuria and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994;5:1349-1354.
18. Harris RA, Gray DW, Britton BJ, Toogood GJ, Morris PJ: Hepatic cystic disease in an adult polycystic kidney disease transplant population. Aust NZ J Surg 1996;66:166-168.
19. Torra R, Nicolau C, Badenas C, Navarro S, Perez L, Estivill X, Darnell A: Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. Clin Nephrol 1997;47:19-22.
20. Chapman AB, Rubinstein D, Hughes R, Stears JC, Earnest MP, Johnson AM, Gabow PA, Kaehny WD: Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 1992;327:916-920.
21. Butler WE, Barker FG, Crowell RM: Patients with polycystic kidney disease would benefit from routine magnetic resonance angiographic screening for intracerebral aneurysms: A decision analysis. Neurosurgery 1996;38:506-515.
22. Van Dijk MA, Chang PC, Peters DJ, Breuning MH: Intracranial aneurysms in polycystic kidney disease linked to chromosome 4. J Am Soc Nephrol 1995;6:1670-1673.
23. Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA: Echocardiographic findings in autosomal dominant polycystic kidney disease. N Engl J Med 1988;319:907-912.
24. Leier CV, Baker PB, Kilman JW, Wooley CF: Cardiovascular abnormalities associated with adult polycystic kidney disease. Ann Intern Med 1984;100:683-688.
25. Gabow PA, Chapman AB, Johnson AM, Tangel DJ, Duley IT, Kaehny WD, Manco Johnson M, Schrier RW: Renal structure and hypertension in autosomal dominant polycystic kidney disease. Kidney Int 1990;38:1177-1180.
26. Lazarus JM, Bourgoignie JJ, Buckalew VM, Greene T, Levey AS, Milas NC, Paranandi L, Peterson JC, Porush JG, Rauch S, Soucie JM, Stollar C: Achievement and safety of a low blood pressure goal in chronic renal disease. The Modification of Diet in Renal Disease Study Group. Hypertension 1997;29:641-650.
27. Baer JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC: Autosomal dominant polycystic kidney disease: New information for genetic counselling. Am J Med Genet 1992;43:548-553.
28. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM: Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994;343:824-827.
29. Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, Kincaid-Smith P, Danks DM: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1992;340: 1330-1333.
30. Wilson PD, Hreniuk D, Gabow PA: Abnormal extracellular matrix and excessive growth of human adult polycystic kidney disease epithelia. J Cell Physiol 1992;150:360-369.
31. Klingel R, Dippold W, Storkel S, Meyer zum Buschenfelde KH, Kohler H: Expression of differentiation antigens and growth-related genes in normal kidney, autosomal dominant polycystic kidney disease, and renal cell carcinoma. Am J Kidney Dis 1992;19:22-30.
32. Nadasty T, Lasizik 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.
33. Ogborn MR, Sareen S: Transforming growth factor-α and epidermal growth factor expression in experimental murine polycystic kidney disease. Pediatr Nephrol 1996;10:181-184.
34. Nauta J, Sweeney WE, Rutledge JC, Avner ED: Biliary epithelial cells from mice with congenital polycystic kidney disease are hyperresponsive to epidermal growth factor. Pediatr Res 1995;37:755-763.
35. Woo D: Apoptosis and loss of renal tissue in polycystic kidney diseases. N Engl J Med 1995; 333:18-25.
36. Winyard PJD, Nauta J, Lirenman DS, Hardman P, Sams VR, Risdon RA, Woolf AS: Deregulation of cell survival in cystic and dysplastic renal development. Kidney Int 1996;49:135-146.
37. Lanoix J, D'Agati V, Szabolcs M, Trudel M: Dysregulation of cellular proliferation and apoptosis mediates human autosomal dominate polycystic kidney disease. Oncogene 1996;13:1153-1160.
38. Du J, Wilson PD: Abnormal polarization of EGF receptors and autocrine stimulation of cyst epithelial growth in human ADPKD. Am J Physiol 1995;269:C487-C495.
39. 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.
40. Ehara T, Carone FA, McCarthy KJ, Couchman JR: Basement membrane chondroitin sulfate proteoglycan alterations in a rat model of polycystic kidney disease. Am J Pathol 1994;144:612-621.
41. Carone FA, Jin H, Nakamura S, Kanwar YS: Decreased synthesis and delayed processing of sulfated glycoproteins by cells from human polycystic kidneys. Lab Invest 1993;68:413-418.
42. Klingel R, Ramadori G, Schuppan D, Knittel T, Meyer zum Buschenfelde KH, Kohler H: Coexpression of extracellular matrix glycoproteins undulin and tenascin in human autosomal dominant polycystic kidney disease. Neph-ron 1993;65:111-118.
43. Calvet JP: Polycystic kidney disease: Primary extracellular matrix abnormality or defective cellular differentiation? Kidney Int 1993;43: 101-108.
44. Cowley BD, Gudapaty S, Kraybill AL, Barash BD, Harding MA, Calvet P, Gattone VH: Autosomal-dominant polycystic kidney disease in the rat. Kidney Int 1993;43:522-534.
45. Zeier M, Fehrenbach P, Geberth S, Mohring K, Waldherr R, Ritz E: Renal histology in polycystic kidney disease with incipient and advanced renal failure. Kidney Int 1992;42:1259-1265.
46. Ritz E, Zeier M, Geberth S, Waldherr R: Autosomal dominant polycystic kidney disease - Mechanisms of cyst formation and renal failure. Aust NZJ Med 1993;23:35-41.
47. Mangoo-Karim R, Ye M, Wallace DP, Grantham JJ, Sullivan LP: Anion secretion by monolayers of cultured human polycystic cells. Am J Physiol 1995;269:F381-F388.
48. Grantham JJ, Ye M, Gattone VH, Sullivan LP: In vitro fluid secretion by epithelium from polycystic kidneys. J Clin Invest 1995;95:195-202.
49. Davidow CJ, Maser RL, Rome LA, Calve JP, Grantham JJ: The cystic fibrosis transmembrane conductance regulator mediates transepithelial fluid secretion by human autosomal dominant polycystic kidney disease epithelium in vitro. Kidney Int 1996;50:208-218.
50. Hanaoka D, Devust O, Schweibert EM, Wilson PD, Guggino WB: A role for CFTR in human autosomal dominant polycystic kidney disease. Am J Physiol 1996;270:389-399.
51. Torres VE, Donovan KA, Scicli G, Holley KH, Thibodeau SN, Carratero OA, Inagami T, McAteer JA, Johnson CM: Synthesis of renin by tubulocystic epithelium in autosomal dominant polycystic kidney disease. Kidney Int 1992;42:364-373.
52. Maschio G, Alberti D, Janin G, Locatelli F, Mann JFE, Motolese M, Ponticelli C, Ritz E, Zucchelli P: Effect of the angiotensin-converting enzyme inhibitor benazepril on the progression of chronic renal insufficiency. N Engl J Med 1996;334:939-945.
53. Munemura C, Uemasu J, Kawasaki H: Epidermal growth factor and endothelin in cyst fluid from autosomal dominant polycystic kidney disease cases: Possible evidence of heterogeneity in cystogenesis. Am J Kidney Dis 1994;24: 561-568.
54. Hocher B, Zart R, Schwarz A, Vogt V, Braun C, Thöne-Reineke C, Braun N, Neumayer HH, Koppenhagen K, Bauer C, Rohmeiss P: Renal endothelin system in polycystic kidney disease. J Am Soc Nephrol 1998;9:1169-1177.
55. 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.
56. Peral B, Ward CJ, San Millan JL, Thomas S, Stallings RL, Moreno F, Harris PC: Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 1994;54:899-908.
57. Snarey A, Thomas S, Schneider MC, Pound SE, Barton N, Wright AF, Somlo S, Germino GG, Harris PC, Reeders ST, Frischauf AM: Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet 1994;55:365-371.
58. Thompson AD, Shen Y, Holman K, Sutherland GR, Callen DF, Richards RI: Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16, Genomics 1992;13:402-408.
59. Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, Lopez Larrea C: Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 1991;338:1484-1487.
60. Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujanski E, Gabow PA: Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 1988;319:913-918.
61. Peters DJ, Sandkuijl LA: Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol. Basel, Karger, 1992, vol 97, pp 128-139.
62. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S: Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 1993;18:467-472.
63. Peters DJ, 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.
64. Bogdanova N, Dworniczak B, Dragova D, Todorov V, Dimitrakov D, Kalinov K, Hallmayer J, Horst J, Kalaydjieva L: Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 1995;95:645-650.
65. De Almeida S, de Almeida E, Peters D, Pinto JR, Travora I, Lavinha J, Breuning M, Prata MM: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995; 96:83-88.
66. The European Polycystic Kidney Disease Consortium: 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.
67. Harris PC, Thomas S, MacCarthy AB, Stallings RL, Breuning MH, Jenne DE, Fink TM, Buckle VJ, Ratcliffe PJ, Ward CJ: A large duplicated area in the polycystic kidney disease 1 region of chromosome 16 is prone to rearrangement. Genomics 1994;23:321-330.
68. Loftus BJ, Kim HJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes, Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics 1999;60:295-308.
69. Bogdanova N, Markoff A, Dworniczak B, McCluskey M, Gerke V, Horst J: Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 2001;74:333-341.
70. Ibraghimov-Beskrovnaya O, Dackovski WR, Foggensteiner L, Coleman N, Thiru S, Petry LR, Burn TC, Connors TD, van Raay T, Bradley J, Qian F, Onuchic LF, Watnick TH, Piontek K, Hakim R, Landes GM, Germino GG, Sanford 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.
71. Sanford R, Sgotto B, Aparicio S, Brenner S, Vaudin M, Wilson RK, Chissoe S, Pepin K, Bateman A, Chothia C, Hughes J, Harris PC: Comparative analysis of the polycystic kidney disease 1 gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 1997;6:1483-1489.
72. Olsson PG, Lohning C, Horsley S, Kearney L, Harris PC, Friscauf AM: The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene. Genomics 1996;34:233-235.
73. The American PKD1 Consortium (APKD1 Consortium): 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.
74. The International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 1995;81:289-298.
75. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL, Gamble V, Harris PC: The polycystic kidney disease 1 gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10:151-159.
76. 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.
77. Kobe B, Deisenhofer J: The leucine-rich repeat: A versatile binding motif. Trends Biochem Sci 1994;19:415-421.
78. Kobe B, Deisenhofer J: A structural basis of the interactions between leucine-rich repeats and protein ligands. Nature 1995;374:183-186.
79. Weis WI, Drickamer K, Hendrickson WA: Structure of a C-type mannose-binding protein complexed with an oligosaccharide. Nature 1992;360:127-134.
80. Bork P, Bairoch A: Extracellular modules. Trends Biochem Sci 1995;20(3):poster.
81. Krieger M, Herz J: Structures and functions of multiligand lipoprotein receptors: Macrophage scavenger receptors and LDL receptor-related protein. Annu Rev Biochem 1994;63:601-637.
82. Moy GW, Mendoza LM, Schulz JR, Swanson WJ, Glabe CG, Vacquier VD: 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 1996;133:809-817.
83. Bycroft M, Bateman A, Clarke J, Hamill SJ, Sandford R, Thomas RL, Chothia C: The structure of a PKD domain from polycystin-1: Implications for polycystic kidney disease. EMBO J 1999;18:297-305.
84. Ibraghimov-Beskrovnaya O, Bukanov NO, Donohue LC, Dackowski WR, Klinger KW, Landes GM: Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1. Hum Mol Genet 2000;9:1641-1649.
85. 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.
86. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G: Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 1997;94:6965-6970.
87. 2+-permeable cation channel. Biol Chem 2000;45:263-265.
88. Parnell SC, Magenheimer BS, Maser RL, Rankin CA, Smine A, Okamoto T, Calvet JP: The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. Biochem Biophys Res Commun 1998;251:625-631.
89. Kim E, Arnould T, Sellin LK, Benzing T, Fan MJ, Gruning W, Sokol SY, Drummond I, Walz G: The polycystic kidney disease 1 gene product modulates Wnt signaling. J Biol Chem 1999;274:4947-4953.
90. Kim E, Arnould T, Sellin L, Benzing T, Comella N, Kocher O, Tsiokas L, Sukhatme VP, Walz G: Interaction between RGS7 and polycystin. Proc Natl Acad Sci USA 1999;96:6371-6376.
91. Huan Y, van Adelsberg J: Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins. J Clin Invest 1999;104:1459-1468.
92. Charron AJ, Nakamura S, Bacallao R, Wandinger-Ness A: Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells. J Cell Biol 2000;149:111-124.
93. Bhunia AK, Pointek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG: PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 2002;109:157-168.
94. 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: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-1342.
95. Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S: Characterization of the exon structure of the polycystic kidney disease 2 gene. Genomics 1997;44:131-136.
96. Babitch J: Channel hands. Nature 1990;346:321-322.
97. Williams ME, Brust PF, Feldman DH, Patthi S, Simerson S, Maroufi A, McCue AF, Velicelebi G, Ellis SB, Harpold MM: Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel. Science 1992;257:389-395.
98. Nakayama S, Kretsinger RH: Evolution of the EF-hand family of proteins. Annu Rev Biophys Biomol Struct 1994;23:473-507.
99. Vassilev PM, Guo L, Chen XZ, Segal Y, Peng JB, Basora N, Babakhanlou H, Cruger G, Kanazirska M, Ye Cp, Brown EM, Hediger MA, Zhou J: Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease. Biochem Biophys Res Commun 2001; 282:341-350.
100. Koulen P, Cai Y, Geng L, Maeda Y, Nishimura S, Witzgall R, Ehrlich BE, Somlo S: Polycystin-2 is an intracellular calcium release channel. Natl Cell Biol 2002;4:191-197.
101. Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S: Identification and characterization of polycystin-2, the PKD2 gene product. J Biol Chem 1999;274:28557-28565.
102. Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG: Co-assembly of poly-cystin-1 and -2 produces unique cation-permeable currents. Nature 2000;408:990-994.
103. Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R: The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc Natl Acad Sci USA 2000;97:4017-4022.
104. Nomura H, Turco AE, Pei Y, Kalaydjieva L, Schiavello T, Weremowicz S, Ji W, Morton CC, Meisler M, Reeders ST, Zhou J: Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J Biol Chem 1998;273:25967-25973.
105. Wu G, Hayashi T, Park JH, Dixit M, Reynolds DM, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S: Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25. Genomics 1998;54:564-568.
106. Guo L, Chen M, Baora N, Zhou J: The human polycystic kidney disease 2-like (PKDL) gene: Exon/intron structure and evidence for a novel splicing mechanism. Mamm Genome 2000;11:46-50.
107. Hughes J, Ward CJ, Aspinwall R, Butler R, Harris PC: Identification of a human homologue of the sea urchin receptor for egg jelly: A polycystic kidney disease-like protein. Hum Mol Genet 1999;8:543-549.
108. 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.
109. Wright GD, Hughes AE, Larkin KA, Doherty CC, Nevin NC: Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus. Nephrol Dial Transplant 1993;8:491-494.
110. Peral B, San Millan JL, Hernandez C, Valero A, Lathrop GM, Beckmann JS, Moreno F: Estimating locus heterogeneity in autosomal dominant polycystic kidney disease in the Spanish population. J Med Genet 1993;30: 910-913.
111. Coto E, Sanz de Castro S, Aguado S, Alvarez J, Arias M, Menendez MJ, Lopez-Larrea C: DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: Evaluation of clinical heterogeneity between both forms of the disease. J Med Genet 1995;32:442-445.
112. Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D: Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. Hum Genet 1998;102:216-220.
113. Badenas C, Torra R, San Millan JL, Lucero L, Mila M, Estivill X, Darnell A: Mutational analysis within the 3′ region of the PKD1 gene. Kidney Int 1999;55:1225-1233.
114. Neophytou P, Constantinides R, Lazarou A, Pierides A, Deltas CC: Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease. Hum Genet 1996;98:437-442.
115. Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J: Screening the 3′ region of the polycystic kidney disease 1 gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations. Hum Mutat 2000;16:166-174.
116. Peral B, San Millan JL, Ong AC, Gamble V, Ward CJ, Strong C, Harris PC: Screening the 3′ region of the polycystic kidney disease 1 gene reveals six novel mutations. Am J Hum Genet 1996;58:86-96.
117. Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti F: A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease in a large three-generation Italian family. Hum Mol Genet 1995;4:1331-1335.
118. Rosetti S, Bresin E, Restagno G, Carbonara A, Corra S, De Prisco O, Pignatti PF, Turco AE: Autosomal dominant polycystic kidney disease in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene. Am J Med Genet 1996;65:155-159.
119. Peral B, Gamble V, Strong C, Ong ACM, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC: Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene by a novel approach. Am J Hum Genet 1997;60:1399-1410.
120. Roelfsema JH, Peters DJ, Breuning MH: Detection of translation terminating mutations in the PKD1 gene. Nephrol Dial Transplant Suppl 1996;6:5-9.
121. Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lense XM, Neumann HPH, Germino GG: An unusual pattern of mutations in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Hum Mol Genet 1997;6:1473-1481.
122. 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, PKD1, by long-range PCR. Am J Hum Genet 1999;65:39-49.
123. Watnick TJ, Gandolph MA, Weber H, Neumann JP, Germino GG: Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 1998;7:1239-1243.
124. Rossetti S, Strmecki L, Gambe V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, Harris P: Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications. Am J Hum Genet 2001;68:46-63.
125. McCluskey M, Schiavello T, Hunter M, Hantke J, Angelicheva D, Bogdanova N, Markoff A, Thomas M, Dworniczak B, Horst J, Kalaydjieva L: Mutation detection in the duplicated region of the polycystic kidney disease 1 gene in PKD-1 linked Australian families. Hum Mutat 2001;19:240-250.
126. Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S: Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J Am Soc Nephrol 1999;10:2342-2351.
127. Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, Vitali ED, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, del Senno L: Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. Am J Kidney Dis 1999;33:880-885.
128. Pritschard L, Sloane-Stanley JA, Sharpe JA, Aspinwall R, Lu W, Buckle V, Strmecki L, Walker D, Ward CJ, Alpers CE, Zhou J, Wood WG, Harris PC: A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet 2000;9:2617-2627.
129. Lu W, Peissel B, Babakhanlou 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.
130. 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 Pkd1-targeted heterozygotes. Nat Genet 1999;21:160-161.
131. Kim K, Drummond I, Ibraghimov-Beskrovnaya O, Klinger K, Arnaout MA: Polycystin 1 is required for the structural integrity of blood vessels. Proc Natl Acad Sci USA 2000;97:1731-1736.
132. Wu G, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 1998;93:177-188.
133. Wu G, Markowitz GS, Li L, D'Agati VD, Factor SM, Geng L, Tibara S, Tuchman J, Cai Y, Park JH, van Adelsberg J, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S: Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet 2000;24:75-78.
134. Pennekamp P, Karcher C, Fischer A, Schweickert A, Skryabin B, Horst J, Blum M, Dworniczak B: The ion channel polycystin-2 is required for left-right axis determination in mice. Curr Biol 2002;12:938-943.
135. Nauta J, Goedbloed MA, Luider TM, Hoogeveen AT, van den Ouweland AM, Halley DJ: The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1. Lab Anim 1997;31:241-247.
136. Schafer K, Gretz N, Bader M, Oberbaumer I, Eckardt KU, Kriz W, Bachmann S: Characterization of the Han: SPRD rat model for hereditary polycystic kidney disease. Kidney Int 1994;46:134-152.
137. Obermuller N, Gretz N, Kriz W, van der Woude FJ, Reilly RF, Murer H, Biber J, Witzgall R: Differentiation and cell polarity during renal cyst formation in the Han:SPRD (cy/+) rat, a model for ADPKD. Am J Physiol 1997;273:F357-F371.
138. Nauta J, Goedbloed MA, Herck HV, Hesselink DA, Visser P, Willemsen R, Dokkum RP, Wright CJ, Guay-Woodford LM: New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. J Am Soc Nephrol 2000;11:2272-2284.
139. 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.
140. Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG: Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 1998;2:247-251.
141. Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou 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.
142. Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P: Somatic PKD2 mutations in individual kidney and liver cysts support a 'two-hit' model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1999;10:1524-1529.
143. Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris P, Darnell A, San Millan JL: Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. Kidney Int 1999;56:28-33.
144. Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y: Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nat Genet 2000;25:143-144.
145. Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC: Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet 2000;9:447-452.