A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5)

Biochemical and Biophysical Research Communications

Volumn 301, Issue 1, 2003, Pages 98-101

  Lamhonwah, Anne Marie ^a   Skaug, Jennifer ^a   Scherer, Stephen W ^a   Tein, Ingrid ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Carnitine transporter; Crohn's disease; OCTN3 gene; Organic cation transporter; Peroxisomes

Indexed keywords

CARNITINE; ORGANIC CATION TRANSPORTER;

ARTICLE; CHEMICAL ANALYSIS; CHROMOSOME; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CROHN DISEASE; DISEASE PREDISPOSITION; DNA SEQUENCE; GENE LOCATION; GENE LOCUS; GENE MAPPING; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PEROXISOME; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TRANSPORT; SYNTENY;

MURINAE;

EID: 0037474487     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(02)02946-7     Document Type: Article

References (23)

1. Tamai I., Ohashi R., Nezu J., Yabuuchi H., Oku A., Shimane M., Sai Y., Tsuji A. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J. Biol. Chem. 273:1998;20378-20382.
2. Tamai I., Ohashi R., Nezu J.I., Sai Y., Kobayashi D., Oku A., Shimane M., Tsuji A. Molecular and functional characterization of organic cation/carnitine transporter family in mice. J. Biol. Chem. 275:2000;40064-40072.
3. Wu X., George R.L., Huang W., Wang H., Conway S.J., Leibach F.H., Ganapathy V. Structural and functional characteristics and tissue distribution pattern of rat OCTN1, an organic cation transporter, cloned from placenta. Biochim. Biophys. Acta. 1466:2000;315-327.
4. Rioux J.D., Daly M.J., Silverberg M.S., Lindblad K., Steinhart H., Cohen Z., Delmonte T.et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat. Genet. 29:2001;223-228.
5. Ullrich K.J. Specificity of transporters for 'organic anions' and 'organic cations' in the kidney. Biochim. Biophys. Acta. 1197:1994;45-62.
6. Ramsay R.R. The carnitine acyltransferases: modulators of acyl-CoA-dependent reactions. Biochem. Soc. Trans. 28:2000;182-186.
7. Tamai I., Yabuuchi H., Nezu J., Sai Y., Oku A., Shimane M., Tsuji A. Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. FEBS Lett. 419:1997;107-111.
8. Wu X., Prasad P.D., Leibach F.H., Ganapathy V. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem. Biophys. Res. Commun. 246:1998;589-595.
9. Lamhonwah A.M., Tein I. GFP-human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect. Biochem. Biophys. Res. Commun. 264:1999;909-914.
10. James M.J., Brooks D.E., Snoswell A.M. Kinetics of carnitine uptake by rat epididymal cells. Androgen-dependence and lack of stereospecificity. FEBS Lett. 126:1981;53-56.
11. Hamilton J.W., Li B.U., Shug A.L., Olsen W.A. Carnitine transport in human intestinal biopsy specimens. Demonstration of an active transport system. Gastroenterology. 91:1986;10-16.
12. Bieber L.L. Carnitine. Ann. Rev. Biochem. 57:1988;261-283.
13. Huth P.J., Shug A. Properties of carnitine transport in rat kidney cortex slices. Biochim. Biophys. Acta. 602:1980;621-634.
14. Rebouche C.J., Engel A.G. Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency. In Vitro. 18:1982;495-500.
15. Shaw R.D., Li B.U., Hamilton J.W., Shug A.L., Olsen W.A. Carnitine transport in rat small intestine. Am. J. Physiol. 245:1983;G376-G381.
16. Martinuzzi A., Vergani L., Rosa M., Angelini C. L-Carnitine uptake in differentiating human cultured muscle. Biochim. Biophys. Acta. 1095:1991;217-222.
17. Tein I., De Vivo D.C., Bierman F., Pulver P., De Meirleir L.J., Cvitanovic-Sojat L., Pagon R.A., Bertini E., Dionisi-Vici C., Servidei S., DiMauro S. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr. Res. 28:1990;247-255.
18. Stanley C.A., DeLeeuw S., Coates P.M., Vianey-Liaud C., Divry P., Bonnefont J.P., Saudubray J.-M., Haymond M., Trefz F.K., Breningstall G.N., Wappner R.S., Byrd D.J., Sansariq C., Tein I., Grover W., Valle D., Rutledge S.L., Treem W.R. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann. Neurol. 30:1991;709-716.
19. Sekine T., Kusuhara H., Utsunomiya-Tate N., Tsuda M., Sugiyama Y., Kanai Y., Endou H. Molecular cloning and characterization of high-affinity carnitine transporter from rat intestine. Biochem. Biophys. Res. Commun. 251:1998;586-591.
20. Roediger W.E., Nance S. Metabolic induction of experimental ulcerative colitis by inhibition of fatty acid oxidation. Br. J. Exp. Pathol. 67:1986;773-782.
21. Hahn P., Taller M. Ketone formation in the intestinal mucosa of infant rats. Life Sci. 41:1987;1525-1528.
22. Kim Y.I. Short-chain fatty acids in ulcerative colitis. Nutr. Rev. 56:1998;17-24.
23. Roediger W.E. What sequence of pathogenetic events leads to acute ulcerative colitis? Dis. Colon Rectum. 31:1988;482-487.