Homozygous SLC2A9 mutations cause severe renal hypouricemia

Journal of the American Society of Nephrology

Volumn 21, Issue 1, 2010, Pages 64-72

  Dinour, Dganit ^a   Gray, Nicola K ^d,f,g   Campbell, Susan ^d   Shu, Xinhua ^d   Sawyer, Lindsay ^e   Richardson, William ^d,f,g   Rechavi, Gideon ^a   Amariglio, Ninette ^a   Ganon, Liat ^a   Sela, Ben Ami ^a   Bahat, Hilla ^b   Goldman, Michael ^b   Weissgarten, Joshua ^b,c   Millar, Michael R ^g   Wright, Alan F ^d   Holtzman, Eliezer J ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c ASSAF HAROFEH MEDICAL CENTER   (Israel)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e School of Biological Sciences   (United Kingdom)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

^g MRC Reproductive Biology Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 9; UNCLASSIFIED DRUG; URIC ACID;

ACID SECRETION; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXERCISE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC SCREENING; GENOME; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOURICEMIA; KIDNEY FAILURE; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; PHENOTYPE; PRIORITY JOURNAL; SLC2A9 GENE; URIC ACID TRANSPORTER 1 GENE;

EID: 75149114710     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2009040406     Document Type: Article

References (33)

1. Wu XW, Lee CC, Muzny DM, Caskey CT: Urate oxidase: Primary structure and evolutionary implications. Proc Natl Acad Sci U S A 86: 9412-9416, 1989
2. Feig DI, Kang DH, Johnson RJ: Uric acid and cardiovascular risk. N Engl J Med 359: 1811-1821, 2008
3. Sperling O: Hereditary renal hypouricemia. Mol Genet Metab 89: 14-18, 2006
4. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H: Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417: 447-452, 2002
5. Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T: Clinical and molecular analysis of patients with renal hypouricemia in Japan: Influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol 15: 164-173, 2004
6. Ichida K, Hosoyamada M, Kamatani N, Kamitsuji S, Hisatome I, Shibasaki T, Hosoya T: Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. Clin Genet 74: 243-251, 2008
7. Cheong HI, Kang JH, Lee JH, Ha IS, Kim S, Komoda F, Sekine T, Igarashi T, Choi Y: Mutational analysis of idiopathic renal hypouricemia in Korea. Pediatr Nephrol 20: 886-890, 2005
8. Dinour D, Gafter U, Knecht A, Rachamimov R, Serban I, Holtzman EJ: Novel missense mutations in the Urat1 gene are associated with renal hypouricemia in Iraqui-Jews [Abstract]. J Am Soc Nephrol 15: 89A, 2004
9. Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Volker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H, Doering A, Wichmann HE, Spector TD, Peltonen L, Volzke H, Nagaraja R, Vollenweider P, Caulfield M, Illig T, Gieger C: Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet 5: e1000504, 2009
10. Hagos Y, Stein D, Ugele B, Burckhardt G, Bahn A: Human renal organic anion transporter 4 operates as an asymmetric urate transporter. J Am Soc Nephrol 18: 430-439, 2007
11. Uchino H, Tamai I, Yamashita K, Minemoto Y, Sai Y, Yabuuchi H, Miyamoto K, Takeda E, Tsuji A: p-Aminohippuric acid transport at renal apical membrane mediated by human inorganic phosphate transporter NPT1. Biochem Biophys Res Commun 270: 254-259, 2000
12. Woodward OM, Kottgen A, Coresh J, Boerwinkle E, Guggino WB, Kottgen M: Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A 106: 10338-10342, 2009
13. Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF: SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 40: 437-442, 2008
14. Caulfield MJ, Munroe PB, O'Neill D, Witkowska K, Charchar FJ, Doblado M, Evans S, Eyheramendy S, Onipinla A, Howard P, Shaw-Hawkins S, Dobson RJ, Wallace C, Newhouse SJ, Brown M, Connell JM, Dominiczak A, Farrall M, Lathrop GM, Samani NJ, Kumari M, Marmot M, Brunner E, Chambers J, Elliott P, Kooner J, Laan M, Org E, Veldre G, Viigimaa M, Cappuccio FP, Ji C, Iacone R, Strazzullo P, Moley KH, Cheeseman C: SLC2A9 is a high-capacity urate transporter in humans. PLoS Med 5: e197, 2008
15. Anzai N, Ichida K, Jutabha P, Kimura T, Babu E, Jin CJ, Srivastava S, Kitamura K, Hisatome I, Endou H, Sakurai H: Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. J Biol Chem 283: 26834-26838, 2008
16. Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, Wiriyasermkul P, Kikuchi Y, Oda T, Nishiyama J, Nakamura T, Morimoto Y, Kamakura K, Sakurai Y, Nonoyama S, Kanai Y, Shinomiya N: Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83: 744-751, 2008
17. Bahat H, Dinour D, Ganon L, Feldman L, Holtzman EJ, Goldman M: Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family. Pediatr Nephrol 24: 999-1003, 2009
18. Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H: A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int 66: 935-944, 2004
19. Wakida N, Tuyen DG, Adachi M, Miyoshi T, Nonoguchi H, Oka T, Ueda O, Tazawa M, Kurihara S, Yoneta Y, Shimada H, Oda T, Kikuchi Y, Matsuo H, Hosoyamada M, Endou H, Otagiri M, Tomita K, Kitamura K: Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. J Clin Endocrinol Metab 90: 2169-2174, 2005
20. Phay JE, Hussain HB, Moley JF: Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9). Genomics 66: 217-220, 2000
21. Augustin R, Carayannopoulos MO, Dowd LO, Phay JE, Moley JF, Moley KH: Identification and characterization of human glucose transporter-like protein-9 (GLUT9): Alternative splicing alters trafficking. J Biol Chem 279: 16229-16236, 2004
22. Doring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, Volzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C: SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 40: 430-436, 2008
23. Bannasch D, Safra N, Young A, Karmi N, Schaible RS, Ling GV: Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4: e1000246, 2008
24. Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T: The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr Nephrol 19: 728-733, 2004
25. Ejaz AA, Mu W, Kang DH, Roncal C, Sautin YY, Henderson G, Tabah-Fisch I, Keller B, Beaver TM, Nakagawa T, Johnson RJ: Could uric acid have a role in acute renal failure? Clin J Am Soc Nephrol 2: 16-21, 2007
26. Waring WS, McKnight JA, Webb DJ, Maxwell SR: Uric acid restores endothelial function in patients with type 1 diabetes and regular smokers. Diabetes 55: 3127-3132, 2006
27. Ishikawa I: Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. Nephron 91: 559-570, 2002
28. Ohta T, Sakano T, Igarashi T, Itami N, Ogawa T: Exercise-induced acute renal failure associated with renal hypouricaemia: Results of a questionnaire-based survey in Japan. Nephrol Dial Transplant 19: 1447-1453, 2004
29. Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, Lai S, Dei M, Orru M, Albai G, Bandinelli S, Schlessinger D, Lakatta E, Scuteri A, Najjar SS, Guralnik J, Naitza S, Crisponi L, Cao A, Abecasis G, Ferrucci L, Uda M, Chen WM, Nagaraja R: The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet 3: e194, 2007
30. Stark K, Reinhard W, Neureuther K, Wiedmann S, Sedlacek K, Baessler A, Fischer M, Weber S, Kaess B, Erdmann J, Schunkert H, Hengstenberg C: Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study. PLoS ONE 3: e1948, 2008
31. Taniguchi A, Kamatani N: Control of renal uric acid excretion and gout. Curr Opin Rheumatol 20: 192-197, 2008
32. Schild L: The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. Nephrologie 17: 395-400, 1996
33. Gray NK, Coller JM, Dickson KS, Wickens M: Multiple portions of poly(A)-binding protein stimulate translation in vivo. EMBO J 19: 4723-4733, 2000