Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg2+ handling

American Journal of Physiology - Renal Physiology

Volumn 305, Issue 11, 2013, Pages

  de Baaij, Jeroen H F ^a   Groot Koerkamp, Marian J ^b   Lavrijsen, Marla ^b   van Zeeland, Femke ^a   Meijer, Hans ^a   Holstege, Frank C P ^b   Bindels, René J M ^a   Hoenderop, Joost G J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Complex Object Parametric Analyzer and Sorter; Distal convoluted tubule; Gene expression microarray; Hypomagnesemia; Magnesium homeostasis

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AQUAPORIN 1; CLAUDIN 16; DECAY ACCELERATING FACTOR; ENHANCED GREEN FLUORESCENT PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; MAGNESIUM ION; MESSENGER RNA; PARVALBUMIN; POTASSIUM CHANNEL KV1.1; SODIUM CHLORIDE COTRANSPORTER; TAMM HORSFALL GLYCOPROTEIN; TRANSCRIPTOME; TRANSIENT RECEPTOR POTENTIAL CHANNEL M6;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BONE MINERALIZATION; CONTROLLED STUDY; DIMERIZATION; DNA MICROARRAY; ENZYME ACTIVITY; GENE EXPRESSION; IMMUNOHISTOCHEMISTRY; KIDNEY DISTAL TUBULE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGULATOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 84888797712     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.00322.2013     Document Type: Article

References (50)

1. Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 20: 1123-1131, 2009.
2. +-ATPase and mediates the adenosine monophosphate-stimulated protein kinase-dependent regulation of sodium pump surface expression. Mol Biol Cell 21: 4400-4408, 2010.
3. Belge H, Gailly P, Schwaller B, Loffing J, Debaix H, Riveira-Munoz E, Beauwens R, Devogelaer JP, Hoenderop JG, Bindels RJ, Devuyst O. Renal expression of parvalbumin is critical for NaCl handling and response to diuretics. Proc Natl Acad Sci USA 104: 14849-14854, 2007.
4. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360: 1960-1970, 2009.
5. Cheval L, Pierrat F, Dossat C, Genete M, Imbert-Teboul M, Duong Van Huyen JP, Poulain J, Wincker P, Weissenbach J, Piquemal D, Doucet A. Atlas of gene expression in the mouse kidney: new features of glomerular parietal cells. Physiol Genomics 43: 161-173, 2011.
6. de Baaij JH, Hoenderop JG, Bindels RJ. Regulation of magnesium balance: lessons learned from human genetic disease. Clin Kidney J 5: i14-i24, 2012.
7. de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Muller D, Bindels RJ, Hoenderop JG. Membrane topology and intracellular processing of cyclin M2 (CNNM2). J Biol Chem 287: 13644-13655, 2012.
8. Devuyst O, Dahan K, Pirson Y. Tamm-Horsfall protein or uromodulin: new ideas about an old molecule. Nephrol Dial Transplant 20: 1290-1294, 2005.
9. Dørup J. Ultrastructure of distal nephron cells in rat renal cortex. J Ultrastruct Res 92: 101-118, 1985.
10. 2+ homeostasis. Kidney Int 82: 1157-1166, 2012.
11. +-ATPase. Biochem Biophys Res Commun 404: 284-290, 2011.
12. Geraghty KM, Chen S, Harthill JE, Ibrahim AF, Toth R, Morrice NA, Vandermoere F, Moorhead GB, Hardie DG, MacKintosh C. Regulation of multisite phosphorylation and 14-3-3 binding of AS160 in response to IGF-1, EGF, PMA and AICAR. Biochem J 407: 231-241, 2007.
13. 2+ channel transient receptor potential cation channel V5 (TRPV5). J Biol Chem 279: 26351-26357, 2004.
14. Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 119: 936-942, 2009.
15. 2+ content and estrogens. J Am Soc Nephrol 17: 1035-1043, 2006.
16. Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 117: 2260-2267, 2007.
17. Johnen G, Kaufman S. Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1. Proc Natl Acad Sci USA 94: 13469-13474, 1997.
18. Kim HY, Choi HJ, Lim JS, Park EJ, Jung HJ, Lee YJ, Kim SY, Kwon TH. Emerging role of Akt substrate protein AS160 in the regulation of AQP2 translocation. Am J Physiol Renal Physiol 301: F151-F161, 2011.
19. 2+ carrier. J Biol Chem 283: 16235-16247, 2008.
20. 2+ exchanger. Am J Physiol Cell Physiol 302: C318-C326, 2012.
21. 2+ homoeostasis. Clin Sci (Lond) 123: 1-14, 2012.
22. Liang X, Butterworth MB, Peters KW, Frizzell RA. AS160 modulates aldosterone-stimulated epithelial sodium channel forward trafficking. Mol Biol Cell 21: 2024-2033, 2010.
23. Limaye CS, Londhey VA, Nadkart MY, Borges NE. Hypomagnesemia in critically ill medical patients. J Assoc Physicians India 59: 19-22, 2011.
24. 2+-dependent endosomal recycling through its N-terminal cytoplasmic domain. Biochem J 439: 129-139, 2011.
25. Margaritis T, Lijnzaad P, van Leenen D, Bouwmeester D, Kemmeren P, van Hooff SR, Holstege FC. Adaptable gene-specific dye bias correction for two-channel DNA microarrays. Mol Syst Biol 5: 266, 2009.
26. Markadieu N, San-Cristobal P, Nair AV, Verkaart S, Lenssen E, Tudpor K, van Zeeland F, Loffing J, Bindels RJ, Hoenderop JG. A primary culture of distal convoluted tubules expressing functional thiazide-sensitive NaCl transport. Am J Physiol Renal Physiol 303: F886-F892, 2012.
27. +-ATPase α-subunit. Nat Genet 26: 265-266, 2000.
28. Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science 254: 1762-1767, 1991.
29. Meyer AH, Katona I, Blatow M, Rozov A, Monyer H. In vivo labeling of parvalbumin-positive interneurons and analysis of electrical coupling in identified neurons. J Neurosci 22: 7055-7064, 2002.
30. Miinea CP, Sano H, Kane S, Sano E, Fukuda M, Peranen J, Lane WS, Lienhard GE. AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain. Biochem J 391: 87-93, 2005.
31. + cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner. J Biol Chem 286: 30200-30210, 2011.
32. 2+ transport proteins in kidney. Kidney Int 64: 555-564, 2003.
33. Pradervand S, Zuber Mercier A, Centeno G, Bonny O, Firsov D. A comprehensive analysis of gene expression profiles in distal parts of the mouse renal tubule. Pflügers Arch 460: 925-952, 2010.
34. Quamme GA. Molecular identification of ancient and modern mammalian magnesium transporters. Am J Physiol Cell Physiol 298: C407-C429, 2010.
35. 2+ hyperabsorption in TRPV5 knockout mice. J Am Soc Nephrol 16: 3188-3195, 2005.
36. Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 18: 1271-1283, 2007.
37. Roepman P, de Koning E, van Leenen D, de Weger RA, Kummer JA, Slootweg PJ, Holstege FC. Dissection of a metastatic gene expression signature into distinct components. Genome Biol 7: R117, 2006.
38. Rude RK, Gruber HE. Magnesium deficiency and osteoporosis: animal and human observations. J Nutr Biochem 15: 710-716, 2004.
39. Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 31: 166-170, 2002.
40. Sedlacek M, Schoolwerth AC, Remillard BD. Electrolyte disturbances in the intensive care unit. Semin Dial 19: 496-501, 2006.
41. Sikri KL, Foster CL, MacHugh N, Marshall RD. Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques. J Anat 132: 597-605, 1981.
42. Sourdive DJ, Transy C, Garbay S, Yaniv M. The bifunctional DCOH protein binds to HNF1 independently of its 4-α-carbinolamine dehydratase activity. Nucleic Acids Res 25: 1476-1484, 1997.
43. 2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet 88: 333-343, 2011.
44. Thebault S, Alexander RT, Tiel Groenestege WM, Hoenderop JG, Bindels RJ. EGF increases TRPM6 activity and surface expression. J Am Soc Nephrol 20: 78-85, 2009.
45. van de Peppel J, Kemmeren P, van Bakel H, Radonjic M, van Leenen D, Holstege FC. Monitoring global messenger RNA changes in externally controlled microarray experiments. EMBO Rep 4: 387-393, 2003.
46. Vyletal P, Bleyer AJ, Kmoch S. Uromodulin biology and pathophysiology-an update. Kidney Blood Press Res 33: 456-475, 2010.
47. Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 31: 171-174, 2002.
48. Woudenberg-Vrenken TE, Sukinta A, van der Kemp AW, Bindels RJ, Hoenderop JG. Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia. Nephron Physiol 117: p11-19, 2011.
49. Wu H, Kerr MK, Cui X, Churchill GA. MAANOVA: a software package for the analysis of spotted cDNA microarray experiments. In: The Analysis of Gene Expression Data: Methods and Software. New York: Springer, 2012, p. 313-342.
50. Yang YH, Dudoit S, Luu P, Lin DM, Peng V, Ngai J, Speed TP. Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res 30: e15, 2002.