Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors

Pharmacogenetics and Genomics

Volumn 18, Issue 9, 2008, Pages 793-802

  Walstab, Jutta ^a   Hammer, Christian ^b   Bönisch, Heinz ^a   Rappold, Gudrun ^b   Niesler, Beate ^b  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

5 hydroxytryptamine 3 receptor; Ca 2+ influx; HTR3B; Ligand gated ion channel; Radioligand binding; Variant

Indexed keywords

3 (5 METHYL 1H IMIDAZOL 4 YL) 1 (1 METHYL 1H INDOL 3 YL) 1 PROPANONE; AEQUORIN; AZASETRON; COMPLEMENTARY DNA; ONDANSETRON; SEROTONIN; SEROTONIN 3A RECEPTOR; SEROTONIN 3B RECEPTOR; CALCIUM; HTR3A PROTEIN, HUMAN; HTR3B PROTEIN, HUMAN; PROTEIN SUBUNIT; SEROTONIN ANTAGONIST; SEROTONIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BIOLUMINESCENCE; CALCIUM TRANSPORT; CELL STRAIN HEK293; CHEMOTHERAPY INDUCED EMESIS; GENE; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; GENETIC VARIABILITY; HTR3B GENE; HUMAN; HUMAN CELL; INTESTINE MOTILITY; IRRITABLE COLON; LIGAND BINDING; MENTAL DISEASE; NUCLEOTIDE SEQUENCE; PAIN; PERISTALSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR INTRINSIC ACTIVITY; SINGLE NUCLEOTIDE POLYMORPHISM; CELL CULTURE; CHEMISTRY; ELECTROPHYSIOLOGY; GENETICS; KIDNEY; LUMINESCENCE; METABOLISM; RADIOASSAY;

AEQUORIN; CALCIUM; CELLS, CULTURED; ELECTROPHYSIOLOGY; HUMANS; KIDNEY; LUMINESCENCE; PROTEIN SUBUNITS; RADIOLIGAND ASSAY; RECEPTORS, SEROTONIN; SEROTONIN; SEROTONIN ANTAGONISTS;

EID: 53049098052     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283050117     Document Type: Article

References (39)

1. Faerber L, Drechsler S, Ladenburger S, Gschaidmeier H, Fischer W. The neuronal 5-HT3 receptor network after 20 years of research-evolving concepts in management of pain and inflammation. Eur J Pharmacol 2007; 560:1-8.
2. Derkach V, Surprenant A, North RA. 5-HT3 receptors are membrane ion channels. Nature 1989; 339:706-709.
3. Niesler B, Frank B, Kapeller J, Rappold GA. Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E. Gene 2003; 310:101-111.
4. Belelli D, Balcarek JM, Hope AG, Peters JA, Lambert JJ, Blackburn TP. Cloning and functional expression of a human 5-hydroxytryptamine type 3AS receptor subunit. Mol Pharmacol 1995; 48:1054-1062.
5. Miyake A, Mochizuki S, Takemoto Y, Akuzawa S. Molecular cloning of human 5-hydroxytryptamine3 receptor: heterogeneity in distribution and function among species. Mol Pharmacol 1995; 48:407-416.
6. Davies PA, Pistis M, Hanna MC, Peters JA, Lambert JJ, Hales TG, et al. The 5-HT3B subunit is a major determinant of serotonin-receptor function. Nature 1999; 397:359-363.
7. Dubin AE, Huvar R, D'Andrea MR, Pyati J, Zhu JY, Joy KC, et al. The pharmacological and functional characteristics of the serotonin 5-HT(3A) receptor are specifically modified by a 5-HT(3B) receptor subunit. J Biol Chem 1999; 274:30799-30810.
8. Niesler B, Walstab J, Combrink S, Möller D, Kapeller J, Rietdorf J, et al. Characterization of the novel human serotonin receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E. Mol Pharmacol 2007; 72:8-17.
9. Niesler B, Kapeller J, Hammer C, Rappold G. Serotonin type 3 Receptor genes: HTR3A, B, C, D, E. PGBase Focus of Experts. Pharmacogenomics 2008; 9:501-504.
10. Kurzwelly D, Barann M, Kostanian A, Combrink S, Bönisch H, Göthert M, et al. Pharmacological and electrophysiological properties of the naturally occurring Pro391Arg variant of the human 5-HT3A receptor. Pharmacogenetics 2004; 14:165-172.
11. Krzywkowski K, Jensen AA, Connolly CN, Bräuner-Osborne H. Naturally occurring variations in the human 5-HT3A gene profoundly impact 5-HT3 receptor function and expression. Pharmacogenet Genomics 2007; 17:255-266.
12. Niesler B, Flohr T, Nöthen MM, Fischer C, Rietschel M, Franzek E, et al. Association between the 50 UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder. Pharmacogenetics 2001; 11:471-475.
13. Yamada K, Hattori E, Iwayama Y, Ohnishi T, Ohba H, Toyota T, et al. Distinguishable haplotype blocks in the HTR3A and HTR3B region in the Japanese reveal evidence of association of HTR3B with female major depression. Biol Psychiatry 2006; 60:192-201.
14. Sugai T, Suzuki Y, Sawamura K, Fukui N, Inoue Y, Someya T. The effect of 5-hydroxytryptamine 3A and 3B receptor genes on nausea induced by paroxetine. Pharmacogenomics J 2006; 6:351-356.
15. Frank B, Niesler B, Nöthen MM, Neidt H, Propping P, Bondy B, et al. Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 2004; 131:1-5.
16. Tremblay PB, Kaiser R, Sezer O, Rosler N, Schelenz C, Possinger K, et al. Variations in the 5-hydroxytryptamine type 3B receptor gene as predictors of the efficacy of antiemetic treatment in cancer patients. J Clin Oncol 2003; 21:2147-2155.
17. Gutierrez B, Arranz MJ, Huezo-Diaz P, Dempster D, Matthiasson P, Travis M, et al. Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response. Schizophr Res 2002; 58:93-97.
18. Horton RM, Cai ZL, Ho SN, Pease LR. Gene splicing by overlap extension: tailor-made genes using the polymerase chain reaction. Biotechniques 1990; 8:528-535.
19. Walstab J, Combrink S, Brüss M, Göthert M, Niesler B, Bönisch H. Aequorin luminescence-based assay for 5-hydroxytryptamine (serotonin) type 3 receptor characterization. Anal Biochem 2007; 368:185-192.
20. Cheng Y, Prusoff WH. Relationship between the inhibition constant (K1) and the concentration of inhibitor which causes 50 per cent inhibition (I50) of an enzymatic reaction. Biochem Pharmacol 1973; 22:3099-3108.
21. Hapfelmeier G, Tredt C, Haseneder R, Zieglgansberger W, Eisensamer B, Rupprecht R, et al. Co-expression of the 5-HT3B serotonin receptor subunit alters the biophysics of the 5-HT3 receptor. Biophys J 2003; 84:1720-1733.
22. Brady CA, Stanford IM, Ali I, Lin L, Williams JM, Dubin AE, et al. Pharmacological comparison of human homomeric 5-HT3A receptors versus heteromeric 5-HT3A/3B receptors. Neuropharmacology 2001; 41:282-284.
23. Lansdell SJ, Gee VJ, Harkness PC, Doward AI, Baker ER, Gibb AJ, et al. RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells. Mol Pharmacol 2005; 68:1431-1438.
24. Cheng A, McDonald NA, Connolly CN. Cell surface expression of 5-hydroxytryptamine type 3 receptors is promoted by RIC-3. J Biol Chem 2005; 280:22502-22507.
25. Cheng A, Bollan KA, Greenwood SM, Irving AJ, Connolly CN. Differential subcellular localization of RIC-3 isoforms and their role in determining 5-HT3 receptor composition. J Biol Chem 2007; 282:26158-26166.
26. Buisson B, Bertrand D. Chronic exposure to nicotine upregulates the human (alpha)4(beta)2 nicotinic acetylcholine receptor function. J Neurosci 2001; 21:1819-1829.
27. Moroni M, Zwart R, Sher E, Cassels BK, Bermudez I. Alpha4beta2 nicotinic receptors with high and low acetylcholine sensitivity: pharmacology, stoichiometry, and sensitivity to long-term exposure to nicotine. Mol Pharmacol 2006; 70:755-768.
28. Halevi S, McKay J, Palfreyman M, Yassin L, Eshel M, Jorgensen E, et al. The C. elegans ric-3 gene is required for maturation of nicotinic acetylcholine receptors. EMBO J 2002; 21:1012-1020.
29. Stevens R, Rüsch D, Solt K, Raines DE, Davies PA. Modulation of human 5-hydroxytryptamine type 3AB receptors by volatile anesthetics and n-alcohols. J Pharmacol Exp Ther 2005; 314:338-345.
30. Krzywkowski K. Do polymorphisms in the human 5-HT3 genes contribute to pathological phenotypes? Biochem Soc Trans 2006; 34:872-876.
31. Krzywkowski K, Davies PA, Feinberg-Zadek PL, Bräuner-Osborne H, Jensen AA. High-frequency HTR3B variant associated with major depression dramatically augments the signaling of the human 5-HT3AB receptor. Proc Natl Acad Sci U S A 2008; 105:722-727.
32. Peters JA, Kelley SP, Dunlop JI, Kirkness EF, Hales TG, Lambert JJ. The 5-hydroxytryptamine type 3 (5-HT3) receptor reveals a novel determinant of single-channel conductance. Biochem Soc Trans 2004; 32:547-552.
33. Hu XQ, Zhang L, Stewart RR, Weight FF. Arginine 222 in the pre-transmembrane domain 1 of 5-HT3A receptors links agonist binding to channel gating. J Biol Chem 2003; 278:46583-46589.
34. Hu XQ, Sun H, Peoples RW, Hong R, Zhang L. An interaction involving an arginine residue in the cytoplasmic domain of the 5-HT3A receptor contributes to receptor desensitization mechanism. J Biol Chem 2006; 281:21781-21788.
35. Hu XQ, Peoples RW. Arginine 246 of the pretransmembrane domain 1 region alters 2,2,2-trichloroethanol action in the 5-hydroxytryptamine3A receptor. J Pharmacol Exp Ther 2008; 324:1011-1018.
36. Suzuki Y, Sawamura K, Someya T. Polymorphisms in the 5-hydroxytryptamine 2A receptor and CytochromeP4502D6 genes synergistically predict fluvoxamine-induced side effects in Japanese depressed patients. Neuropsychopharmacology 2006; 31:825-831.
37. Hayes MR, Covasa M. CCK and 5-HT act synergistically to suppress food intake through simultaneous activation of CCK-1 and 5-HT3 receptors. Peptides 2005; 26:2322-2330.
38. Faris PL, Kim SW, Meller WH, Goodale RL, Oakman SA, Hofbauer RD, et al. Effect of decreasing afferent vagal activity with ondansetron on symptoms of bulimia nervosa: a randomised, double-blind trial. Lancet 2000; 355:792-797.
39. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15:7-12.