Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 649-659

  Lantinga van Leeuwen, Irma S ^a   Leonhard, Wouter N ^a   Dauwerse, Hans ^a   Baelde, Hans J ^a   van Oost, Bernard A ^b   Breuning, Martijn H ^a   Peters, Dorien J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

ADPKD; PKD1; PKD2; Polycystic kidney disease

Indexed keywords

BINDING PROTEIN; E BOX BINDING FACTOR; EARLY GROWTH RESPONSE FACTOR 1; LUCIFERASE; MYELOID ZINC FINGER 1 PROTEIN; PROTEIN MINI; PROTEIN ZBP 89; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR E2F; TRANSCRIPTION FACTOR ETS; TRANSCRIPTION FACTOR SP1; UNCLASSIFIED DRUG; ZINC; ZINC FINGER PROTEIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CELL CYCLE; CLINICAL FEATURE; E BOX ELEMENT; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PKD1 GENE; PKD2 GENE; PRIORITY JOURNAL; PROMOTER REGION; PUFFER FISH; REPORTER GENE; SEQUENCE ANALYSIS;

5' FLANKING REGION; ANIMALS; BASE SEQUENCE; BINDING SITES; CLONING, MOLECULAR; CONSERVED SEQUENCE; DOGS; GENE EXPRESSION REGULATION; HUMANS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROMOTER REGIONS (GENETICS); PROTEINS; SEQUENCE ALIGNMENT; TAKIFUGU; TRANSCRIPTION FACTORS; TRPP CATION CHANNELS;

MAMMALIA; MURINAE; TAKIFUGU RUBRIPES;

EID: 18844440145     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201392     Document Type: Article

References (48)

1. Ravine D, Walker RG, Gibson RN et al: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1992; 340: 1330-1333.
2. Gabow PA: Autosomal dominant polycystic kidney disease: more than a renal disease. Am J Kidney Dis 1990; 16: 403-413.
3. Peters DJM, Sandkuijl LA: Genetic heterogeneity of polycystic kidney disease in Europe; In: Breuning MH, Devoto M, Romeo G (eds) Contributions to nephrology, Vol. 97: Polycystic kidney disease Basel: Karger, 1992, pp 128-139.
4. Arnould 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 1998; 273: 6013-6018.
5. Parnell SC, Magenheimer BS, Maser RL, Zien CA, Frischauf AM, Calvet JP: Polycystin-1 activation of c-Jun-N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins. J Biol Chem 2002; 277: 19566-19572.
6. Bhunia AK, Piontek K, Boletta A et al: 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.
7. Nauli SM, Alenghat FJ, Luo Y et al: Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003; 33: 129-137.
8. 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.
9. 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.
10. Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC: Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem 2002; 277: 20763-20773.
11. 2+-permeable nonselective cation channel. Proc Natl Acad Sci USA 2000; 98: 1182-1187.
12. Vassilev PM, Guo L, Chen XZ et al: 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.
13. Koulen P, Cai Y, Geng L et al: Polycystin-2 is an intracellular calcium release channel. Nat Cell Biol 2002; 4: 191-197.
14. Hanaoka K, Qian F, Boletta A et al: Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature 2000; 408: 990-994.
15. Peters DJM, van de WA, Spruit L et al: Cellular localization and tissue distribution of polycystin-1. J Pathol 1999; 188: 439-446.
16. Ong AC, Harris PC, Biddolph S, Bowker C, Ward CJ: Characterisation and expression of the PKD-1 protein, polycystin, in renal and extrarenal tissues. Kidney Int 1999; 55: 2091-2116.
17. Foggensteiner L, Bevan AP, Thomas R et al: Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. J Am Soc Nephrol 2000; 11: 814-827.
18. Geng L, Segal Y, Pavlova A et al: Distribution and developmentally regulated expression of murine polycystin. Am J Physiol (Renal physiol) 1997; 272: F451-F459.
19. Guillaume R, Trudel M: Distinct and common developmental expression patterns of the murine Pkd2 and Pkd1 genes. Mech Dev 2000; 93: 179-183.
20. Lu W, Peissel B, Babakhanlou H et al: Perinatal lethality with kidney and pancreas defects, in mice with a targetted pkd1 mutation. Nat Genet 1997; 17: 179-181.
21. Wu G, D'Agati V, Cai Y et al: Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 1998; 93: 177-188.
22. Boulter C, Mulroy S, Webb S, Fleming S, Brindle K, Sandford R: Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc Natl Acad Sci USA 2001; 98: 12174-12179.
23. Peters DJM, Breuning MH: Autosomal dominant polycystic kidney disease: modification of disease progression. Lancet 2001; 358: 1439-1444.
24. Igarashi P, Somlo S: Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 2002; 13: 2384-2398.
25. Rodova M, Islam MR, Maser RL, Calvet JP: The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway. J Biol Chem 2002; 277: 29577-29583.
26. Sandford R, Sgotto B, Aparicio, S et al: Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integrated membrane glycoprotein with multiple evolutionary conserved domains. Hum Mol Genet 1997; 6: 1483-1489.
27. Mochizuki T, Wu G, Hayashi T et al: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996; 272: 1339-1342.
28. Park JH, Li L, Cai Y et al: Cloning and characterization of the murine pkd2 promoter. Genomics 2000; 66: 305-312.
29. Li R, Mignot E, Faraco J et al: Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library. Genomics 1999; 58: 9-17.
30. Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ et al: Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet 2004; 13: 3069-3077.
31. Lohning C, Nowicka U, Frischauf A-M: The mouse homolog of PKD1: sequence analysis and alternative splicing. Mamm Genome 1997; 8: 307-311.
32. Whyte DA, Li C, Thomson RB et al: Ksp-cadherin gene promoter. I. Characterization and renal epithelial cell-specific activity. Am J Physiol 1999; 277: F587-F598.
33. Aguiari G, Piva R, Manzati E et al: K562 erythroid and HL60 macrophage differentiation downregulates polycystin, a large membrane-associated protein. Exp Cell Res 1998; 244: 259-267.
34. Zhao Y, Haylor JL, Ong AC: Polycystin-2 expression is increased following experimental ischaemic renal injury. Nephrol Dial Transplant 2002; 17: 2138-2144.
35. 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 1997; 94: 6397-6402.
36. Murphy K: Database searches for binding sites. Science 2000; 288: 2319.
37. Loots GG, Ovcharenko I, Pachter L, Dubchak I, Rubin EM: rVista for comparative sequence-based discovery of functional transcription factor binding sites. Genome Res 2002; 12: 832-839.
38. Mrowka R, Steinhage K, Patzak A, Persson PB: An evolutionary approach for identifying potential transcription factor binding sites: the renin gene as an example. Am J Physiol Regul Integr Comp Physiol 2003; 284: R1147-R1150.
39. Hateboer N, Dijk MA, Coto E et al: European PKD1-PKD2 Study Group: comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999; 353: 103-107.
40. Bai L, Merchant JL: ZBP-89 promotes growth arrest through stabilization of p53. Mol Cell Biol 2001; 21: 4670-4683.
41. Wu G, Markowitz GS, Li L et al: Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet 2000; 24: 75-78.
42. Gaboli M, Kotsi PA, Gurrieri C et al: Mzf1 controls cell proliferation and tumorigenesis. Genes Dev 2001; 15: 1625-1630.
43. Blake MC, Jambou RC, Swick AG, Kahn JW, Azizkhan JC: Transcriptional initiation is controlled by upstream GC-box interactions in a TATAA-less promoter. Mol Cell Biol 1990; 10: 6632-6641.
44. Cohen HT, Bossone SA, Zhu G, McDonald GA, Sukhatme VP: Sp1 is a critical regulator of the Wilms' tumor-1 gene. J Biol Chem 1997; 272: 2901-2913.
45. Zatyka M, Morrissey C, Kuzmin I et al: Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. J Med Genet 2002; 39: 463-472.
46. Swoboda P, Adler HT, Thomas JH: The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol Cell 2000; 5: 411-421.
47. Ledford AW, Brantley JG, Kemeny G et al: Deregulated expression of the homeobox gene Cux-1 in transgenic mice results in downregulation of p27(kip1) expression during nephrogenesis, glomerular abnormalities, and multiorgan hyperplasia. Dev Biol 2002; 245: 157-171.
48. Overdier DG, Ye H, Peterson RS, Clevidence DE, Costa RH: The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney. J Biol Chem 1997; 272: 13725-13730.