A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 345-352

  Torra, Roser ^a,c   Badenas, Cèlia ^a   San Millán, José L ^b   Pérez Oller, Laureano ^a   Estivill, Xavier ^a,d   Darnell, Alejandro ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 4; CLINICAL ARTICLE; CONTROLLED STUDY; GENE LOCUS; GENETIC HETEROGENEITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY POLYCYSTIC DISEASE; POINT MUTATION; PRIORITY JOURNAL; SOMATIC MUTATION; SYNDROME DELINEATION;

EID: 0033358598     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302501     Document Type: Article

References (39)

1. Baert L (1978) Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. Kidney Int 13:519-525
2. Bassam BJ, Caetano-Anolles G, Gresshoff PM (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 196:80-83
3. Brasier JL, Henske EP (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-funcrion model for cyst parhogenesis. J Clin Invest 99:194-199
4. Burn TC , Connors TD, Dackowski WR, Petry LR, Van Raay TJ, Millholland JM, Venet M, et al (1995) 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 4:575-582
5. Daoust MC, Reynolds DM, Bichet DG, Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736
6. De Almeida S, de Almeida E, Peters DJM, Pinto JR, Tavora I, Lavinha J, Breuning MH, et al (1995) Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88
7. European Polycystic Kidney Disease Consortium, The (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
8. Gabow PA (1993) Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342
9. Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT, Jones RH (1992) Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int 41:1311-1319
10. Geng L, Segal Y, Peissel B, Deng N, Pei Y, Carone F, Rennke HG, et al (1996) Identification and localization of polycystin, the PKD1 gene product. J Clin Invest 98:2674-2682
11. Hateboer N, Van Dijk MA, Bogdanova N, Coto E, Saggar-Malik A, San Millán JL, Torra R, et al (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353:103-107
12. Hayashi T, Mochizuki T, Reynolds DM, Wu GQ, Cai Y, Somlo S (1997) Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44:131-136
13. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-160
14. Ibraghimov-Beskrovnaya O, Dackowski WR, Foggensteiner L, Coleman N, Thiru S, Petry LR (1997) 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
15. International PKD Consortium (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81:289-298
16. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472
17. Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C (1999) Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8:509-513
18. Martin GM, Ogburn CE, Colgin LM, Gown AM, Edland SD, Monnat RJ (1996) Somatic mutations are frequent and increase with age in human kidney epithelial cells. Hum Mol Genet 5:215-221
19. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342
20. Ong ACM, Ward CJ, Butler RJ, Biddolph S, Bowker C, Torra R, Pei Y, et al (1999) Coordinate expression of the ADPKD proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. Am J Pathol 154:1721-1729
21. Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, et al (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085-1090
22. Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, et al (1998) A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol 9:1853-1860
23. Peters DJM, Sandkuijl LA (1992) Genetic heterogeneity of polycystic kidney disease in Europe. In: Breuning MH, Devoto M, Romeo G (eds) Contributions to nephrology: polycystic kidney disease. Karger, Basel, pp 128-139
24. Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, et al (1993) Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 5:359-362
25. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG (1997) PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 16:179-183
26. Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87:979-987
27. Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, et al (1992) Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1330-1333
28. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs RD, Pearson PL, et al (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544
29. Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L, Estivill X (1996) Linkage, clinical features and prognosis of ADPKD types 1 and 2. J Am Soc Nephrol 7:2142-2151
30. Torra R, Viribay M, Telleria D, Badenas C, Watson M, Harris PC, Darnell A, et al. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney-disease. Kidney Int (in press)
31. Tsiokas L, Kim E, Arnould T, Sukhatme UP, Walz G (1997) Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94: 6965-6970
32. Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, et al (1997) A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61:547-555
33. Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, et al (1997) Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 101:229-234
34. Ward CJ, Turley H, Ong AC, Comley M, Biddolph S, Chetty R, Ratcliffe PJ, et al (1996) Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc Nad Acad Sci USA 93: 1524-1528
35. Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, et al (1998) Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2:247-251
36. Wright GD, Hughes AE, Larkin KA, Doherty CC, Nevin NC (1993) Autosomal dominant polycystic disease with minimal clinical expression unlinked to the PKD1 locus. Nephrol Dial Transplant 8:491-494
37. Wu G, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, et al (1998) Somatic inactivation of PKD2 results in polycystic kidney disease. Cell 93:177-188
38. Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Constantinou-Deltas C (1997) A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). Hum Mol Genet 6:949-952
39. Zielenski J, Rozmahel R, Bozon D, Kerem BS, Grzelczak Z, Riordan JR, Rommens J, et al (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214-28