Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

Journal of the American Society of Nephrology

Volumn 14, Issue 11, 2003, Pages 2873-2882

  Santer, René ^a,k   Kinner, Martina ^a,b   Lassen, Christoph L ^a   Schneppenheim, Reinhard ^b   Eggert, Paul ^a   Bald, Martin ^c,l   Brodehl, Johannes ^d   Daschner, Markus ^e   Ehrich, Jochen H H ^d   Kemper, Markus ^b,f   Li Volti, Salvatore ^g   Neuhaus, Thomas ^f   Skovby, Flemming ^h   Swift, Peter G F ⁱ   Schaub, Jürgen ^a   Klaerke, Dan ^j  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d HANNOVER MEDICAL SCHOOL   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g UNIVERSITY OF CATANIA   (Italy)

^h Mental Health Center Glostrup   (Denmark)

ⁱ UNIVERSITY OF LEICESTER   (United Kingdom)

^j UNIVERSITY OF COPENHAGEN   (Denmark)

^k UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^l OLGAHOSPITAL   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSE; GLUCOSE TRANSPORTER;

ADULT; ARTICLE; CODOMINANCE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DELETION MUTANT; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GERMANY; GLUCOSE ABSORPTION; GLUCOSE TRANSPORT; HUMAN; HUMAN CELL; KIDNEY TUBULE ABSORPTION; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; RENAL DIABETES; SGLT1 GENE; SGLT2 GENE;

EID: 10744229025     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000092790.89332.D2     Document Type: Article

References (41)

1. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM: Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature 350: 354-356, 1991
2. Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J: Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 17: 324-326, 1997
3. Seidner G, Alvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC: GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18: 188-191, 1998
4. Kanai Y, Lee WS, You G, Brown D, Hediger MA: The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose. J Clin Invest 93: 397-404, 1994
5. Hjärne U: Study of orthoglycaemic glycosuria with particular reference to its hereditability. Acta Med Scand 67: 422-571, 1927
6. Oemar BS, Byrd DJ, Brodehl J: Complete absence of tubular glucose reabsorption: A new type of renal glucosuria (type 0). Clin Nephrol 27: 156-160, 1987
7. Santer R, Kinner M, Schneppenheim R, Hillebrand G, Kemper M, Ehrich J, Swift P, Skovby F, Schaub J: The molecular basis of renal glucosuria: Mutations in the gene for a renal glucose transporter (SGLT2) [Abstract]. J Inherit Metab Dis 23[Suppl 1]: 178, 2000
8. van den Heuvel LP, Assink K, Willemsen M, Monnens L: Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). Hum Genet 111: 544-547, 2002
9. Elsas LJ, Rosenberg LE: Familial renal glycosuria: A genetic reappraisal of hexose transport by kidney and intestine. J Clin Invest 48: 1845-1854, 1969
10. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 1989
11. Wells RG, Pajor AM, Kanai Y, Turk E, Wright EM, Hediger MA: Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. Am J Physiol 263: F459-465, 1992
12. Turk E, Martin MG, Wright EM: Structure of the human Na+/glucose cotransporter gene. J Biol Chem 269: 15204-15209, 1994
13. Wells RG, Mohandas TK, Hediger, MA: Localization of the Na+/glucose cotransporter gene SGLT2 to human chromosome 16 close to the centromere. Genomics 17: 787-789, 1993
14. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al: The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999
15. Wright EM: Renal Na(+)-glucose cotransporters. Am J Physiol Renal Physiol 280: F10-F18, 2001
16. Coville G, for the Sanger Centre Chromosome 1 Mapping Group: www.ncbi.n/m.nih.gov, accession CAC00574, gene dJ1024N4, GenBank accession AL109659
17. Diez-Sampedro A, Eskandari S, Wright EM, Hirayama BA: Na+-to-sugar stoichiometry of SGLT3. Am J Physiol Renal Physiol 280: F278-F282, 2001
18. You G, Lee WS, Barros EJ, Kanai Y, Huo TL, Khawaja S, Wells RG, Nigam SK, Hediger MA: Molecular characteristics of Na(+)-coupled glucose transporters in adult and embryonic rat kidney. J Biol Chem 270: 29365-25371, 1995
19. Panayotova-Heiermann M, Loo DD, Kong CT, Lever JE, Wright EM: Sugar binding to Na+/glucose cotransporters is determined by the carboxyl-terminal half of the protein. J Biol Chem 271: 10029-10034, 1996
20. Panayotova-Heiermann M, Eskandari S, Turk E, Zampighi GA, Wright EM: Five transmembrane helices form the sugar pathway through the Na+/glucose cotransporter. J Biol Chem 272: 20324-20327, 1997
21. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-7174, 1987
22. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR: Identification of a splice site mutation (2789 +5 G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum Mutat 9: 332-338, 1997
23. Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, Kudoh J, Shimizu N, Narisawa K: Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. Eur J Pediatr 159: 18-22, 2000
24. Khachadurian AK, Khachadurian LA: The inheritance of renal glycosuria. Am J Hum Genet 16: 189-194, 1964
25. Bradley SE, Bradley GP, Tyson CJ, Curry JJ, Blake WD: Renal function in renal disease. Am J Med 9: 766-798, 1950
26. Reubi F: Glucose titration in renal glucosuria. In The Kidney, a Ciba Foundation Symposium. London, Churchill, 1954
27. Brodehl J, Oemar BS, Hoyer PF: Renal glucosuria. Pediatr Nephrol 1: 502-508, 1987
28. Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K: Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatr Res 48: 586-589, 2000
29. Eskandari S, Wright EM, Kreman M, Starace DM, Zampighi G: A structural analysis of cloned plasma membrane proteins by freeze-fracture electron microscopy. Proc Natl Acad Sci U S A 95: 11235-11240, 1998
30. Diez-Sampedro A, Wright EM, Hirayama BA: Residue 457 controls sugar binding and transport in the Na(+)/glucose cotransporter. J Biol Chem 276: 49188-49194, 2001
31. Martin MG, Turk E, Lostao MP, Kerner C, Wright EM: Defects in Na+/ glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 12: 216-220, 1996
32. Wright EM: Genetic disorders of membrane transport. I. Glucose galactose malabsorption. Am J Physiol 275: G879-G882, 1998
33. Grunnet M, Jensen BS, Olesen SP, Klaerke DA: Apamin interacts with all subtypes of cloned small-conductance Ca2+-activated K+ channels. Pflugers Arch 441: 544-550, 2001
34. Zeuthen T, Zeuthen E, Klaerke DA: Mobility of ions, sugar, and water in the cytoplasm of Xenopus oocytes expressing Na(+)-coupled sugar transporters (SGLT1). J Physiol 542: 71-87, 2002
35. Ikari A, Suketa Y: Expression of GFP-tagged low affinity Na+-dependent glucose transporter in Xenopus oocytes and CHO cells. Jpn J Physiol 52: 395-398, 2002
36. +/glucose cotransporter expression by protein kinases in Xenopus laevis oocytes. J Biol Chem 271: 14740-14746, 1996
37. Pontoglio M, Prie D, Cheret C, Doyen A, Leroy C, Froguel P, Velho G, Yaniv M, Friedlander G: HNF1α controls renal glucose reabsorption in mouse and man. EMBO Rep 1: 359-365, 2000
38. Martin MG, Wang J, Solorzano-Vargas RS, Lam JT, Turk E, Wright EM: Regulation of the human Na(+)-glucose cotransporter gene SGLT 1 by HNF-1 and Sp1. Am J Physiol Gastrointest Liver Physiol 278: G591-G603, 2000
39. De Marchi S, Cecchin E, Basile A, Proto G, Donadon W, Jengo A, Schinella D, Jus A, Villalta D, De Paoli P, Santini G, Tesio F: Close genetic linkage between HLA and renal glycosuria. Am J Nephrol 4: 280-286, 1984
40. Turk E, Wright EM: Membrane topology motifs in the SGLT cotransporter family. J Membr Biol 159: 1-20, 1997
41. Wright EM, Loo DD, Panayotova-Heiermann M, Hirayama BA, Turk E, Eskandari S, Lam JT: Structure and function of the Na+/glucose cotransporter. Acta Physiol Scand Suppl 643: 257-264, 1998