The transcription factor HNF1α regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule

American Journal of Physiology - Renal Physiology

Volumn 299, Issue 6, 2010, Pages

  Tanaka, Karo ^a   Terryn, Sara ^b   Geffers, Lars ^c   Garbay, Serge ^d   Pontoglio, Marco ^d   Devuyst, Olivier ^b  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF LOUVAIN MEDICAL SCHOOL   (Belgium)

^c MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

^d INSTITUT COCHIN   (France)

Author keywords

Absorptive epithelia; Dent's disease; Endocytosis

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION; HOMEODOMAIN CONTAINING HEPATOCYTE NUCLEAR FACTOR 1ALPHA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ACIDIFICATION; ANIMAL CELL; ARTICLE; CHLORIDE PUMP; CHLORIDE TRANSPORT; ENDOCYTOSIS; GLOMERULUS; HUMAN; HUMAN CELL; KIDNEY PROXIMAL TUBULE; KNOCKOUT MOUSE; MEMBRANE POTENTIAL; MOUSE; NEPHRON; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEINURIA; REAL TIME POLYMERASE CHAIN REACTION; TRANSCRIPTION REGULATION;

EID: 78649929398     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.00077.2010     Document Type: Article

References (44)

1. Bach I, Yaniv M. More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. EMBO J 12: 4229-4242, 1993.
2. Blumenfeld M, Maury M, Chouard T, Yaniv M, Condamine H. Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in developing mouse. Development 113: 589-599, 1991.
3. Cereghini S, Ott MO, Power S, Maury M. Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles. Development 116: 783-797, 1992.
4. Cheret C, Doyen A, Yaniv M, Pontoglio M. Hepatocyte nuclear factor 1 alpha controls renal expression of the Npt1-Npt4 anionic transporter locus. J Mol Biol 322: 929-941, 2002.
5. Christensen EI, Verroust PJ, Nielsen R. Receptor-mediated endocytosis in renal proximal tubule. Pflügers Arch 458: 1039-1048, 2009.
6. D'Angelo A, Bluteau O, Garcia-Gonzalez MA, Gresh L, Doyen A, Garbay S, Robine S, Pontoglio M. Hepatocyte nuclear factor 1alpha and beta control terminal differentiation and cell fate commitment in the gut epithelium. Development 137: 1573-1582, 2010.
7. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8: 247-257, 1999.
8. Devuyst O, Guggino WB. Chloride channels in the kidney: lessons learned from knockout animals. Am J Physiol Renal Physiol 283: F1176-F1191, 2002.
9. Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 27: 854-869, 2006.
10. Gorski K, Carneiro M, Schibler U. Tissue-specific in vitro transcription from the mouse albumin promoter. Cell 47: 767-776, 1986.
11. Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M. A transcriptional network in polycystic kidney disease. EMBO J 23: 1657-1668, 2004.
12. Günther W, Lüchow A, Cluzeaud F, Vandewalle A, Jentsch TJ. ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci USA 95: 8075-8080, 1998.
13. Günther W, Piwon N, Jentsch TJ. The ClC-5 chloride channel knockout mouse - an animal model for Dent's disease. Pflügers Arch 445: 456-62, 2003.
14. Hayama A, Uchida S, Sasaki S, Marumo F. Isolation and characterization of the human CLC-5 chloride channel gene promoter. Gene 261: 355-364, 2000.
15. Jentsch TJ. CLC chloride channels and transporters: from genes to protein structure, pathology and physiology. Crit Rev Biochem Mol Biol 43: 3-36, 2008.
16. +-ATPase are differentially expressed during nephrogenesis. J Am Soc Nephrol 16: 3235-3246, 2005.
17. Jouret F, Igarashi T, Gofflot F, Wilson PD, Karet FE, Thakker RV, Devuyst O. Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int 65: 198-208, 2004.
18. Lazzaro D, De Simone V, De Magistris L, Lehtonen E, Cortese R. LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 114: 469-479, 1992.
19. Lima WR, Parreira KS, Devuyst O, Caplanusi A, N'kuli F, Marien B, Van Der Smissen P, Alves PM, Verroust P, Christensen EI, Terzi F, Matter K, Balda MS, Pierreux CE, Courtoy PJ. ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells. J Am Soc Nephrol 21: 478-488, 2010.
20. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV. A common molecular basis for three inherited kidney stone diseases. Nature 379: 445-449, 1996.
21. Maizel JV, Lenk RP. Enhanced graphic matrix analysis of nucleic acid and protein sequences. Proc Natl Acad Sci USA 78: 7665, 1981.
22. Maunoury R, Robine S, Pringault E, Léonard N, Gaillard JA, Louvard D. Developmental regulation of villin gene expression in the epithelial cell lineages of mouse digestive and urogenital tracts. Development 115: 717-728, 1992.
23. Mellman I, Fuchs R, Helenius A. Acidification of the endocytic and exocytic pathways. Annu Rev Biochem 55: 663-700, 1986.
24. +-ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int 63: 1285-1295, 2003.
25. Odom DT, Dowell RD, Jacobsen ES, Gordon W, Danford TW, MacIsaac KD, Rolfe PA, Conboy CM, Gifford DK, Fraenkel E. Tissue-specific transcriptional regulation has diverged significantly between human and mouse. Nat Genet 39: 730-732, 2007.
26. Parreira KS, Debaix H, Cnops Y, Geffers L, Devuyst O. Expression patterns of the aquaporin gene family during renal development: influence of genetic variability. Pflügers Arch 458: 745-759, 2009.
27. Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29: e45, 2001.
28. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408: 369-373, 2000.
29. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babinet C, Yaniv M. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84: 575-585, 1996.
30. Pontoglio M, Faust DM, Doyen A, Yaniv M, Weiss MC. Hepatocyte nuclear factor 1alpha gene inactivation impairs chromatin remodeling and demethylation of the phenylalanine hydroxylase gene. Mol Cell Biol 17: 4948-4956, 1997.
31. Pontoglio M, Prié D, Cheret C, Doyen A, Leroy C, Froguel P, Velho G, Yaniv M, Friedlander G. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep 1: 359-365, 2000.
32. Rice P, Longden I, Bleasby A. EMBOSS: the European Molecular Biology Open Software Suite. Trends Genet 16: 276-277, 2000.
33. Rosen B, Beddington R. Detection of mRNA in whole mounts of mouse embryos using digoxigenin riboprobes. Methods Mol Biol 28: 201-208, 1994.
34. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386, 2000.
35. Scheel O, Zdebik AA, Lourdel S, Jentsch TJ. Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 436: 424-427, 2005.
36. Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53: 3-17, 1998.
37. Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL, Stoffel M. Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet 27: 375-382, 2001.
38. Tanaka K, Fisher SE, Craig IW. Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. Genomics 58: 281-292, 1999.
39. Terryn S, Jouret F, Vandenabeele F, Smolders I, Moreels M, Devuyst O, Steels P, Van Kerkhove E. A primary culture of mouse proximal tubular cells, established on collagen-coated membranes. Am J Physiol Renal Physiol 293: F476-F485, 2007.
40. Tronche F, Ringeisen F, Blumenfeld M, Yaniv M, Pontoglio M. Analysis of the distribution of binding sites for a tissue-specific transcription factor in the vertebrate genome. J Mol Biol 266: 231-245, 1997.
41. Tronche F, Yaniv M. HNF1, a homeoprotein member of the hepatic transcription regulatory network. Bioessays 14: 579-587, 1992.
42. Vandewalle A, Cluzeaud F, Peng KC, Bens M, Lüchow A, Günther W, Jentsch TJ. Tissue distribution and subcellular localization of the ClC-5 chloride channel in rat intestinal cells. Am J Physiol Cell Physiol 280: C373-C381, 2001.
43. Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB. Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet 9: 2937-2945, 2000.
44. Wrong OM, Norden AG, Feest TG. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q J M 87: 473-493, 1994.