Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

Kidney International

Volumn 81, Issue 8, 2012, Pages 769-778

  Schaeffer, Céline ^a,b   Cattaneo, Angela ^b   Trudu, Matteo ^a,b   Santambrogio, Sara ^a,b,h   Bernascone, Ilenia ^a,b,i   Giachino, Daniela ^c   Caridi, Gianluca ^d   Campo, Andrea ^e   Murtas, Corrado ^f   Benoni, Simona ^c   Izzi, Claudia ^g   De Marchi, Mario ^c   Amoroso, Antonio ^c   Ghiggeri, Gian Marco ^d   Scolari, Francesco ^g   Bachi, Angela ^b   Rampoldi, Luca ^a,b  

^a DULBECCO TELETHON INSTITUTE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e University of Parma ^*  (Italy)

^f UNIVERSITY OF PARMA   (Italy)

^g Montichiari Hospital   (Italy)

^h UNIVERSITY OF ZURICH   (Switzerland)

ⁱ CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

Author keywords

aggregation; Tamm Horsfall protein; urinary protein secretion; uromodulin

Indexed keywords

ISOPROTEIN; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENDOPLASMIC RETICULUM; FEMALE; GAIN OF FUNCTION MUTATION; HUMAN; IMMUNOFLUORESCENCE; IN VITRO STUDY; IN VIVO STUDY; KIDNEY DISEASE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN POLYMERIZATION; PROTEIN SECRETION; SEQUENCE ANALYSIS; URINALYSIS; WESTERN BLOTTING;

EID: 84859355241     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2011.456     Document Type: Article

References (33)

1. Tamm I, Horsfall FL. Characterisation and separation of an inhibitor of viral hemagglutination present in urine. Proc Soc Exp Biol Med 1950; 74: 108-114.
2. Bachmann S, Koeppen-Hagemann I, Kriz W. Ultrastructural localization of Tamm-Horsfall glycoprotein (THP) in rat kidney as revealed by protein A-gold immunocytochemistry. Histochemistry 1985; 83: 531-538. (Pubitemid 16176745)
3. Santambrogio S, Cattaneo A, Bernascone I et al. Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. Biochem Biophys Res Commun 2008; 370: 410-413.
4. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis 2003; 42: 658-676. (Pubitemid 37187366)
5. Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-892. (Pubitemid 36009149)
6. Rampoldi L, Caridi G, Santon D et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 2003; 12: 3369-3384. (Pubitemid 37541082)
7. Lens XM, Banet JF, Outeda P et al. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005; 46: 52-57. (Pubitemid 40848433)
8. Scolari F, Caridi G, Rampoldi L et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004; 44: 987-999. (Pubitemid 39556478)
9. Bernascone I, Vavassori S, Di Pentima A et al. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 2006; 7: 1567-1579. (Pubitemid 44524528)
10. Vylet'al P, Kublova M, Kalbacova M et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/ MCKD syndrome. Kidney Int 2006; 70: 1155-1169. (Pubitemid 44344088)
11. Jennings P, Aydin S, Kotanko P et al. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol 2007; 18: 264-273. (Pubitemid 46053438)
12. Williams SE, Reed AA, Galvanovskis J et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 2009; 18: 2963-2974.
13. Bernascone I, Janas S, Ikehata M et al. A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. Hum Mol Genet 2010; 19: 2998-3010.
14. Scolari F, Puzzer D, Amoroso A et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 1999; 64: 1655-1660. (Pubitemid 30481517)
15. Jovine L, Qi H, Williams Z et al. The ZP domain is a conserved module for polymerization of extracellular proteins. Nat Cell Biol 2002; 4: 457-461. (Pubitemid 34746165)
16. Ksiezak-Reding H, Wall JS. Mass and physical dimensions of two distinct populations of paired helical filaments. Neurobiol Aging 1994; 15: 11-19. (Pubitemid 24075008)
17. de Godoy LM, Olsen JV, Cox J et al. Comprehensive mass-spectrometry-based proteome quantification of haploid versus diploid yeast. Nature 2008; 455: 1251-1254.
18. Miranda E, Perez J, Ekeowa UI et al. A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency. Hepatology 2010; 52: 1078-1088.
19. Hegedus T, Aleksandrov A, Cui L et al. F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive. Biochim Biophys Acta 2006; 1758: 565-572.
20. Gentzsch M, Choudhury A, Chang XB et al. Misassembled mutant DeltaF508 CFTR in the distal secretory pathway alters cellular lipid trafficking. J Cell Sci 2007; 120: 447-455. (Pubitemid 46332508)
21. Dahan K, Devuyst O, Smaers M et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003; 14: 2883-2893. (Pubitemid 37305651)
22. Rezende-Lima W, Parreira KS, Garcia-Gonzalez M et al. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. Kidney Int 2004; 66: 558-563. (Pubitemid 38981995)
23. Wenk RE, Bhagavan BS, Rudert J. Tamm-Horsfall uromucoprotein and the pathogenesis of casts, reflux nephropathy, and nephritides. Pathobiol Annu 1981; 11: 229-257.
24. Renigunta A, Renigunta V, Saritas T et al. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem 2011; 286: 2224-2235.
25. Choi SW, Ryu OH, Choi SJ et al. Mutant Tamm-Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate. J Am Soc Nephrol 2005; 16: 3006-3014. (Pubitemid 44743498)
26. Burrows JA, Willis LK, Perlmutter DH. Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. Proc Natl Acad Sci USA 2000; 97: 1796-1801. (Pubitemid 30118522)
27. Rubenstein RC, Zeitlin PL. A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 1998; 157: 484-490. (Pubitemid 28090539)
28. Schaeffer C, Santambrogio S, Perucca S et al. Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly. Mol Biol Cell 2009; 20: 589-599.
29. Shevchenko A, Wilm M, Vorm O et al. Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels. Anal Chem 1996; 68: 850-858.
30. Rappsilber J, Mann M, Ishihama Y. Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips. Nat Protoc 2007; 2: 1896-1906. (Pubitemid 47308128)
31. Olsen JV, de Godoy LM, Li G et al. Parts per million mass accuracy on an Orbitrap mass spectrometer via lock mass injection into a C-trap. Mol Cell Proteomics 2005; 4: 2010-2021. (Pubitemid 41830195)
32. Cox J, Mann M. MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification. Nat Biotechnol 2008; 26: 1367-1372.
33. Cox J, Matic I, Hilger M et al. A practical guide to the MaxQuant computational platform for SILAC-based quantitative proteomics. Nat Protoc 2009; 4: 698-705.