Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy

American Journal of Nephrology

Volumn 36, Issue 2, 2012, Pages 114-120

  Wei, Xin ^a   Xu, Ricong ^a   Yang, Zhenhua ^b   Li, Zhijian ^a   Liao, Yunhua ^b   Johnson, Richard J ^c   Yu, Xueqing ^a   Chen, Wei ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b GUANGXI MEDICAL UNIVERSITY   (China)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

Familial juvenile hyperuricemic nephropathy; Mutation analysis; Uromodulin

Indexed keywords

CREATININE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; TAMM HORSFALL GLYCOPROTEIN; URIC ACID;

ADULT; ARTICLE; ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLOMERULUS FILTRATION RATE; HUMAN; HYPERTENSION; HYPERURICEMIA; IMMUNOFLUORESCENCE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY FIBROSIS; KIDNEY PARENCHYMA; KIDNEY TUBULE ATROPHY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; URINARY EXCRETION;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; EXONS; FAMILY HEALTH; FEMALE; GOUT; HUMANS; HYPERURICEMIA; KIDNEY; KIDNEY DISEASES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; UROMODULIN; YOUNG ADULT;

EID: 84863534278     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000339752     Document Type: Article

References (24)

1. Duncan H, Dixon AS: Gout, familial hypericaemia, and renal disease. Q J Med 1960;29:127-135.
2. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ: 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)
3. Casari G, Amoroso A: Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. J Nephrol 2003;16:459. (Pubitemid 36773201)
4. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Buchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y: 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)
5. Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, Osabe D, Shinohara S, Nomura K, Segawa M, Miyamoto T, Moritani M, Kunika K, Itakura M: Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004;65:1589-1597. (Pubitemid 38591005)
6. Pennica D, Kohr WJ, Kuang WJ, Glaister D, Aggarwal BB, Chen EY, Goeddel DV: Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987;236:83-88. (Pubitemid 17056818)
7. Kumar S, Muchmore A: Tamm-Horsfall protein - uromodulin (1950-1990). Kidney Int 1990;37:1395-1401. (Pubitemid 20198019)
8. Serafini-Cessi F, Malagolini N, Cavallone D: Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis 2003;42:658-676. (Pubitemid 37187366)
9. Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Moriniere V, Williams P, Wong W, Rorsman P, Thakker RV: 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.
10. Calado J, Gaspar A, Clemente C, Rueff J: A novel heterozygous missense mutation in the UMOD gene responsible for familial juvenile hyperuricemic nephropathy. BMC Med Genet 2005;6:5.
11. Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L: Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 2006;7:1567-1579. (Pubitemid 44524528)
12. Vylet'al P, Kublova M, Kalbacova M, Hodanova K, Baresova V, Stiburkova B, Sikora J, Hulkova H, Zivny J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S: Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 2006;70:1155-1169. (Pubitemid 44344088)
13. Nasr SH, Lucia JP, Galgano SJ, Markowitz GS, D'Agati VD: Uromodulin storage disease. Kidney Int 2008;73:971-976. (Pubitemid 351458310)
14. Turner JJ, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV: Uromodulin mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab 2003;88:1398-1401. (Pubitemid 36337807)
15. Yang H, Wu C, Zhao S, Guo J: Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. FEBS Lett 2004;578:236-238. (Pubitemid 39601787)
16. Devonald MA, Karet FE: Renal epithelial traffic jams and one-way streets. J Am Soc Nephrol 2004;15:1370-1381. (Pubitemid 38679662)
17. Field MC, Moran P, Li W, Keller GA, Caras IW: Retention and degradation of proteins containing an uncleaved glycosylphosphatidylinositol signal. J Biol Chem 1994;269:10830-10837. (Pubitemid 24198295)
18. Devuyst O, Dahan K, Pirson Y: Tamm-Horsfall protein or uromodulin: new ideas about an old molecule. Nephrol Dial Transplant 2005;20:1290-1294. (Pubitemid 41430599)
19. Rindler MJ, Naik SS, Li N, Hoops TC, Peraldi MN: Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositollinked membrane protein. J Biol Chem 1990;265:20784-20789. (Pubitemid 120014078)
20. Ajit Varki A, Cummings R, Esko J, Hudson F: Essentials of Glycobiology. New York, Cold Spring Harbor Laboratory Press, 1999.
21. Park SW, Choi K, Kim IC, Lee HH, Hooper NM, Park HS: Endogenous glycosylphosphatidylinositolspecific phospholipase C releases renal dipeptidase from kidney proximal tubules in vitro. Biochem J 2001;353:339-344. (Pubitemid 32096944)
22. Spychala J, Madrid-Marina V, Fox IH: Evidence for 'low Km' and 'high Km' soluble 5'-nucleotidases in human tissues and rat liver. Adv Exp Med Biol 1989;253 B: 129-134.
23. Huizinga TW, van der Schoot CE, Jost C, Klaassen R, Kleijer M, von dem Borne AE, Roos D, Tetteroo PA: The PI-linked receptor FcRIII is released on stimulation of neutrophils. Nature 1988;333:667-669.
24. Prajczer S, Heidenreich U, Pfaller W, Kotanko P, Lhotta K, Jennings P: Evidence for a role of uromodulin in chronic kidney disease progression. Nephrol Dial Transplant 2010;25:1896-1903.