Uromodulin: From monogenic to multifactorial diseases

Nephrology Dialysis Transplantation

Volumn 30, Issue 8, 2015, Pages 1250-1256

  Scolari, Francesco ^a   Izzi, Claudia ^a   Ghiggeri, Gian Marco ^b  

^a UNIVERSITY OF BRESCIA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

chronic kidney disease; familial juvenile hyperuricaemic nephropathy; hypertension; medullary cystic kidney disease; uromodulin

Indexed keywords

TAMM HORSFALL GLYCOPROTEIN;

BLOOD PRESSURE REGULATION; CHRONIC KIDNEY DISEASE; DISEASE PREDISPOSITION; ELECTROLYTE BALANCE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; GOUT; HUMAN; HYPERTENSION; HYPERURICEMIA; INNATE IMMUNITY; KIDNEY FAILURE; KIDNEY FIBROSIS; KIDNEY FUNCTION; MOLECULAR PATHOLOGY; MONOGENIC DISORDER; MULTIFACTORIAL GENETIC DISORDER; NEPHROLITHIASIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN SECRETION; PROTEIN STRUCTURE; REVIEW; UMOD GENE; URINARY TRACT INFECTION; ANIMAL; GENETICS; GENOME-WIDE ASSOCIATION STUDY; KIDNEY DISEASE; MALE; MUTATION;

ANIMALS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPERTENSION; KIDNEY DISEASES; MALE; MUTATION; URINARY TRACT INFECTIONS; UROMODULIN;

EID: 84939600481     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu300     Document Type: Review

References (62)

1. Serafini-Cessi F, Malagolini N, Hoops TC et al. Biosynthesis and oligosaccharide processing of human Tamm-Horsfall glycoprotein permanently expressed in HeLa cells. Biochem Biophys Res Commun 1993; 194: 784-790
2. 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
3. Muchmore AV, Decker JM. Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women. Science 1985; 229: 479-481
4. Pennica D, Kohr WJ, Kuang WJ et al. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987; 236: 83-88
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
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
7. 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
8. Kottgen A. Genome-wide association studies in nephrology research. Am J Kidney Dis 2010; 56: 743-758
9. Trudu M, Janas S, Lanzani C et al. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med 2013; 19: 1655-1660
10. Rampoldi L, Scolari F, Amoroso A et al. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 2011; 80: 338-347
11. 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
12. Wiggins RC. Uromucoid (Tamm-Horsfall glycoprotein) forms different polymeric arrangements on a filter surface under different physicochemical conditions. Clin Chim Acta 1987; 162: 329-340
13. Bachmann S, Metzger R, Bunnemann B. Tamm-Horsfall protein-mRNA synthesis is localized to the thick ascending limb of Henle's loop in rat kidney. Histochemistry 1990; 94: 517-523
14. Renigunta A, Renigunta V, Saritas T et al. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium canne ROMK2 and regulates its function. J Biol Chem 2010; 286: 2224-2235
15. Mutig K, Kahl T, Saritas T et al. Activation of the bumetanide-sensitive Na +,K+,2Cl- cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner. J Biol Chem 2011; 286: 30200-30210
16. Bates JM, Raffi HM, Prasadan K et al. Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication. Kidney Int 2004; 65: 791-797
17. Mo L, Zhu X, Huang H et al. Ablation of the Tamm-Horsfall protein gene increases susceptibility of mice to bladder colonization by type 1-fimbriated Escherichia coli. Am J Physiol Renal Physiol 2004; 286: F795-F802
18. Pak J, Pu Y, Zhang ZT et al. Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors. J Biol Chem 2001; 276: 9924-9930
19. Miyake O, Yoshioka T, Yoshimura K et al. Expression of Tamm-Horsfall protein in stone-forming rat models. Br J Urol 1998; 81: 14-19
20. Mo L, Huang HY, Zhu XH et al. Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. Kidney Int 2004; 66: 1159-1166
21. Liu Y, Mo L, Goldfarb DS et al. Progressive renal papillary calcification and ureteral stone formation in mice deficient for Tamm-Horsfall protein. Am J Physiol Renal Physiol 2010; 299: F469-F478
22. Mo L, Liaw L, Evan AP et al. Renal calcinosis and stone formation in mice lacking osteopontin, Tamm-Horsfall protein, or both. Am J Physiol Renal Physiol 2007; 293: F1935-F1943
23. Hession C, Decker J, Sherblom A et al. Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines. Science 1987; 237: 1479-1484
24. Schmid M, Prajczer S, Gruber L et al. Uromodulin facilitates neutrophil migration across renal epithelial monolayers. Cell Physiol Biochem 2010; 26: 311-318
25. Mayrer A, Kashgarian M, Ruddle N et al. Tubulointerstitial nephritis and immunologic responses to Tamm-Horsfall protein in rabbits challenged with homologous urine or Tamm-Horsfall protein. J Immunol 1982; 128: 2634-2642
26. Hoyer JR. Tubulointerstitial immune complex nephritis in rats immunized with Tamm-Horsfall protein. Kidney Int 1980; 17: 284-292
27. Saemann M, Weichhart T, Zeyda M et al. Tamm-Horsfall glycoprotein links innate immune cell activation with adaptive immunity via a Toll-like receptor-4-dependent mechanism. J Clin Invest 2005; 115: 468-475
28. El-Achkar T, Wu X, Rauchman M et al. Tamm-Horsfall protein protects the kidney from ischemic injury by decreasing inflammation and altering TLR4 expression. Am J Physiol Renal Physiol 2008; 295: F534-F544
29. Scolari F, Ghiggeri GM, Casari G et al. Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus. Nephrol Dial Transplant 1998; 13: 2536-2546
30. Scolari F, Caridi G, Rampoldi L et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004; 44: 987-999
31. 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
32. Stiburkova B, Majewski J, Sebesta I et al. Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. Am J Hum Genet 2000; 66: 1989-1994
33. Dahan K, Fuchshuber A, Adamis S, et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? J Am Soc Nephrol 2001; 12: 2348-5734
34. Lens X, Banet J, 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
35. Bingham C, Ellard S, van't Hoff WG et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003; 63: 1645-1651
36. Lhotta K, Piret SE, Kramar R et al. Epidemiology of uromodulin-associated kidney disease-results from a nation-wide survey. Nephron Extra 2012; 2: 147-158
37. Bollée G, Dahan K, Flamant M et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 2011; 6: 2429-2438
38. Piret SE, Thakker RV, Kmoch S et al. UMOD Mutations that Cause Uromodulin Kidney Disease. UKD Foundation and Wake Forest School of Medicine. http://www.ukdcure.org/mutation-catalog (25 November 2013, date last accessed).
39. Moskowitz JL, Piret SE, Lhotta K et al. Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol 2013; 8: 1349-1357
40. Bernascone I, Vavassori S, Di Pentima A et al. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 2006; 7: 1567-1579
41. 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
42. Schaeffer C, Cattaneo A, Trudu M et al. Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. Kidney Int 2012; 81: 769-778
43. Kemter E, Sklenak S, Rathkolb B et al. No amelioration of uromodulin maturation and trafficking defect by sodium-4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. J Biol Chem 2014; 289: 10715-10726
44. Ekici AB, Hackenbeck T, Morinière V et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int 2014; 86: 589-599
45. Kirby A, Gnirke A, David B et al. Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013; 45: 299-303
46. Christodoulou K, Tsingis M, Stavrou C et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD). Hum Mol Genet 1998; 7: 905-911
47. Bleyer A, Stanislav Kmoch A, Corinne Antignac C et al. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol 2014; 9: 527-535
48. Zivna M, Hulkova H, Matignon M et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009; 85: 204-213
49. Piret SE, Danoy P, Dahan K et al. Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet 2011; 129: 51-58
50. Köttgen A, Glazer NL, Dehghan A et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet 2009; 41: 712-717
51. Gudbjartsson D, Holm H, Indridason O et al. Association of variants at UMOD with chronic kidney disease and kidney stones role of age and comorbid diseases. PLoS Genet 2010; 6: e1001039
52. Pattaro C, De Grandi A, Vitart V et al. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC Med Genet 2010; 11: 41
53. Chambers JC, Zhang W, Graham ML et al. Genetic loci influencing kidney function and chronic kidney disease in man. Nat Genet 2010; 42: 373-375
54. Padmanabhan S, Melander O, Johnson T et al. Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet 2010; 6: e1001177
55. Böger C, Gorski M, Li M et al. Association of eGFR-related loci identified by GWAS with incident CKD and ESRD. PLoS Genet 2011; 7: e1002292
56. Reznichenko A, Böger C, Snieder H et al. UMOD as a susceptibility gene for end-stage renal disease. BMC Med Genet 2012; 13: 78
57. Ahluwaliaa T, Lindholma E, Groopb L et al. Uromodulin gene variant is associated with type 2 diabetic nephropathy. J Hypertens 2011; 29: 1731-1734
58. Pattaro C, Köttgen A, Teumer A et al. Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet 2012; 8: e1002584
59. Kottgen A, Hwang SJ, Larson MG et al. Uromodulin levels associate with a common UMOD variant and risk for incident CKD. J Am Soc Nephrol 2010; 21: 337-344
60. Köttgen A, Yang Q, Shimmin L et al. Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing. PLoS ONE 2012; 7: e38311
61. Olden M, Corre T, Hayward C et al. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014; 25: 1869-1882
62. Graham LA, Padmanabhan S, Fraser NJ et al. Validation of uromodulin as a candidate gene for human essential hypertension. Hypertension 2014; 63: 551-558