Molecular basis of autosomal dominant polycystic kidney disease

Seminars in Nephrology

Volumn 19, Issue 4, 1999, Pages 327-343

  Watnick, Terry ^a   Germino, Gregory G ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; KIDNEY DEVELOPMENT; KIDNEY POLYCYSTIC DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SEQUENCE HOMOLOGY;

ANIMALS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MOLECULAR BIOLOGY; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; SEQUENCE ALIGNMENT;

EID: 0032802914     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (80)

1. Kimberling WJ, Fain PR, Kenyon JB, et al: Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 319:913-918, 1988
2. Bogdanova N, Dworniczak B, Dragova D, et al: Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 95:645-650, 1995
3. Peters DJ, Sandkuijl LA: Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol 97:128-139, 1992
4. Kimberling WJ, Kumar S, Gabow PA, et al: Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472, 1993
5. Peters DJM, Spruit L, Saris JJ, et al: Chromosome 4 localization of a second gene for autosomal-dominant polycystic kidney disease. Nat Genet 5:359-362, 1993
6. Ravine D, Walker RG, Gibson RN, et al: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1330-1333, 1992
7. Torra R, Badenas C, Darnell A, et al: Linkage, clinical features, and prognosis of autosomal dominant polycystic kid-ney disease types 1 and 2. J Am Soc Nephrol 7:2142-2151, 1996
8. Hateboer N, v Dijk MA, Bogdanova N, et al: Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353:103-107, 1999
9. Daoust MC, Reynolds DM, Bichet DG, et al: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736, 1995
10. de Almeida S, de Almeida E, Peters D, et al: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88, 1995
11. Ariza M, Alvarez V, Marin R, et al: A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet 34:587-589, 1997
12. Reeders ST, Breuning MH, Davies KE, et al: A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544, 1985
13. 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 77:881-894, 1994
14. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315, 1993
15. Burn TJ, Connors TD, Dackowski WR, et al: The autosomal dominant polycystic kidney disease (PKD1) gene product contains a leucine-rich repeat. Hum Mol Genet 4:575-582, 1995
16. International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289-298, 1995
17. Hughes J, Ward CJ, Peral B, et al: The polycystic kidney disease l (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-160, 1995
18. Germino GG, Weinstat-Saslow D, Himmelbauer H, et al: The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13:144-151, 1992
19. Watnick TJ, Gandolph MA, Weber H, et al: Gene conversion is a likely cause of mutation in PKD1. Hum Mol Genet 7:1239-1243, 1998
20. Van Raay TJ, Burn TC, Connors TD, et al: A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 HDNA-forming sequences. Microb Comp Genomics 1:317-327, 1996
21. Piontek KB, Germino GG: Murine pkdl introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1. Mamm Genome 10:194-196, 1999
22. Peral B, Gamble V, Strong C, et al: Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 60:1399-1410, 1997
23. Watnick TJ, Piontek KB, Cordai TM, et al: 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, 1997
24. Roelfsema JH, Spruit L, Saris JJ, et al: Mutation detection in the repeated part of the PKD1 gene. Am J Hum Genet 61:1044-1052, 1997
25. Pound SE, Carothers AD, Pignatelli PM, et al: Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. J Med Genet 29:247248, 1992
26. Peral B, Ward CJ, San Millan JL, et al: Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 54:899-908, 1994
27. Snarey A, Thomas S, Schneider MC, et al: Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet 55:365-371, 1994
28. Wright GD, Hughes AE, Larkin KA, et al: Linkage disequilibrium between the CA microsatellite D16S283 and PKD1. J Am Soc Nephrol 5:1159-1160, 1994
29. Peral B, Gamble V, Milan JLS, et al: Splicing mutations of the polycystic kidney disease l (PKD1) gene induced by intronic deletion. Hum Mol Genet 4:569-574, 1995
30. Eikenboom JCJ, Vink T, Briet E, et al: Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc Natl Acad Sci USA 91:2221-2224,1994
31. Hulsebos TJM, Bijleveld EH, Riegman PHJ, et al: Identification and characterization of NFl-related loci on human chromosomes 22, 14 and 2. Hum Genet 98:7-11, 1996
32. Collier S, Mayada T, Strachan T: A de novo pathologic point mutation at the 21-hydroxylase locus: Implications for gene conversion in the human genome. Nat Genet 3:260-265, 1993
33. Tusie-Luna MT, White PC: Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sei USA 92:10796-10800, 1995
34. Brook-Carter PT, Peral B, Ward CJ, et al: Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8:328-332, 1994
35. Sandford R, Sgotto B, Aparicio S, et al: Comparative analysis of the polycystic kidney disease l (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 6:1483-1489, 1997
36. Qian F, Germino FJ, Cai Y, et al: PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 16: 179-183, 1997
37. Germino GG: Autosomal dominant polycystic kidney disease: A two-hit model. Hosp Pract 32:81-92, 1997
38. Kobe B, Deisenhofer J: The leucine-rich repeat: a versatile binding motif. Trends Biochem Sci 19:415-421, 1994
39. Bycroft M, Bateman A, Clarke J, et al: The structure of a PKD domain from polycystin-1: Implications for polycystic kidney disease. EMBO J 18:297-305, 1999
40. Moy GW, Mendoza LM, Schulz JR, et al: 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, 1996
41. Geng L, Segal Y, Pavlova A, et al: Distribution and developmentally regulated expression of murine polycystin. Am J Physiol 272:F451-F459, 1997
42. Geng L, Segal Y, Peissel B, et al: Identification and localization of polycystin, the PKD1 gene product. J Clin Invest 98:2674-2682, 1996
43. Ibraghimov-Beskrovnaya O, Dackowski WR, Foggensteiner L, et al: Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc Natl Acad Sci USA 94:6397-6402, 1997
44. Van Adelsberg J, Chamberlain S, D'Agati V: Polycystin expression is temporally and spatially regulated during renal development. Am J Physiol 272:F602-F609, 1997
45. Ward CJ, Turley H, Ong AC, et al: Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc Natl Acad Sci USA 93:1524-1528, 1996
46. Palsson R, Sharma CP, Kim K, et al: Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1. Mol Med 2:702-711, 1996
47. Griffin MD, O'Sullivan DA, Torres VE, et al: Expression of polycystin in mouse metanephros and extra-metanephric tissues. Kidney Int 52:1196-1205, 1997
48. Griffin MD, Torres VE, Grande JP, et ah Immunolocalization of polycystin in human tissues and cultured cells. Proc Assoc Am Physicians 108:185-197, 1996
49. Mochizuki T, Wu G, Hayashi T, et al: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272:1339-1342, 1996
50. Hayashi T, Mochizuki T, Reynolds DM, et al: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44:131-136, 1997
51. Veldhuisen B, Saris JJ, de Haij S, et al: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61:547-555, 1997
52. Pei Y, He N, Wang K, et al: A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol 9:1853-1860, 1998
53. Koptides M, Hadjimichael C, Koupepidou P, et al: Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8:509-513, 1999
54. Pei Y, Wang K, Kasenda M, et al: A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int 53:1127-1132, 1998
55. Viribay M, Hayashi T, Telleria D, et al: Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 101:229-234, 1997
56. Tsiokas L, Kim E, Amould T, et al: Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94:6965-6970, 1997
57. Wu G, D'Agati V, Cai Y, et al: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 93:177-188, 1998
58. Ong ACM, Ward CJ, Butler RJ, et al: Coordinate expression of Polycystin 1 and Polycystin 2 in normal and ADPKD cystic human tissues. J Am Soc Nephrol 9:379a, 1998 (abstr)
59. Markovvitz GS, Cai Y, Li L, et al: Polycystin 2 expression is developmentally regulated. J Am Soc Nephrol 9:378a, 1998 (abstr)
60. Foggensteiner GN, Steiner L, Thomas R, et al: Tissue distribution of polycystin 2. J Am Soc Nephrol 9:373a, 1998 (abstr)
61. Khan O, Velazquez H, Suva T, et al: Nephron segment localization of PKD2 expression. J Am Soc Nephrol 9:376a, 1998 (abstr)
62. Nomura H, Turco AE, Pei Y, et al: 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 273:25967-25973, 1998
63. Wu G, Hayashi T, Park JH, et al: Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25. Genomics 54:564-568, 1998
64. Amould T, Kim E, Tsiokas L, et al: The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1. J Biol Chem 273:6013-6018, 1998
65. Parnell SC, Magenheimer BS, Maser RL, et al: The polycystic kidney disease-1 protein, polycystin-I, binds and activates heterotrimeric G-proteins in vitro. Biochem Biophys Res Commun 251:625-631, 1998
66. Strader CD, Fong TM, Tota MR, et al: Structure and function of G protein-coupled receptors. Annu Rev Biochem 63:101-132, 1994
67. Peral B, Ong AC, San Millan JL, et al: A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5:539-554, 1996
68. Iakoubova OA, Dushkin H, Beier DR: Genetic analysis of a quantitative trait in a mouse model of polycystic kidney disease. Am J Respir Crit Care Med 156:S72-S77, 1997
69. O'Sullivan DA, Torres VE, Gabow PA, et al: Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. Am J Kidney Dis 32:976-983, 1998
70. Hanaoka K, Devuyst O, Schwiebert EM, et al: A role for CFTR in human autosomal dominant polycystic kidney disease [published errata appear in Am J Physiol 271, 1996]. Am J Physiol 270:C389-C399, 1996
71. Baert L: Hereditary polycystic kidney disease (adult form): A microdissection study of two cases at an early state of the disease. Kidney Int 13:519-525, 1978
72. Qian F, Watnick TJ. Onuchic LF, et al: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979-987, 1996
73. Brasier JL, Henske EP: Loss of the polycystic kidney disease (PKD1) region of chromosome 16pl3 in renal cyst cells supports a Ioss-of-function model for cyst pathogenesis. J Clin Invest 99:194-199, 1997
74. Ong AC, Harris PC: Molecular basis of renal cyst formation - one hit or two? Lancet 349:1039-1040, 1997
75. Watnick TJ, Torres VE, Gandolph MA, et al: Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2:247-251, 1998
76. Cai Y, Maeda Y, Wu G, et al: Cellular and subcellular localization of polycystin-2. J Am Soc Nephrol 8:371A, 1997
77. Droz D, Chauveau D, Peters DJ, et al: Polycystin expression in diverse renal cystic diseases. J Am Soc Nephrol 8:371A, 1997
78. Lu W, Peissel B, Babakhanlou H, et al: Perinatal lethality with kidney and pancreas defects in mice with a targeted Pkdl mutation. Nat Genet 17:179-181, 1997
79. Lu W, Fan X, Basora N, et al: Late onset of renal and hepatic cysts in Pkdl-targeted heterozygotes. Nat Genet 21: 160-161, 1999
80. 2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8:509-513, 1999