Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2: Additional amino acids generated by frameshift cause accelerated inactivation

Journal of Molecular and Cellular Cardiology

Volumn 37, Issue 6, 2004, Pages 1205-1211

  Sasano, Tetsuo ^a,b   Ueda, Kazuo ^a   Orikabe, Minako ^a,b   Hirano, Yuji ^a   Kawano, Seiko ^a   Yasunami, Michio ^a   Isobe, Mitsuaki ^b   Kimura, Akinori ^a   Hiraoka, Masayasu ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

C terminus; Electrophysiology; Frameshift; Human ether a go go related gene; Inactivation; Long QT syndrome; Mutation; Trafficking

Indexed keywords

AMINO ACID; GREEN FLUORESCENT PROTEIN; METOPROLOL; MUTANT PROTEIN; PLASMID DNA; POTASSIUM CHANNEL HERG;

ADOLESCENT; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL SURFACE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DENSITY; EMBRYO; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; KIDNEY CELL; LONG QT SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RECURRENT DISEASE; STEADY STATE; SYNCOPE; WILD TYPE;

ADOLESCENT; ETHER-A-GO-GO POTASSIUM CHANNELS; FRAMESHIFT MUTATION; HUMANS; KINETICS; LONG QT SYNDROME; MALE; MICROSCOPY, CONFOCAL; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS, VOLTAGE-GATED; TRANSFECTION;

EID: 9644252676     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2004.09.010     Document Type: Article

References (26)

1. + current: differential sensitivity to block by class-III antiarrhythmic agents J. Gen. Physiol. 96 1990 195 215
2. I. Splawski, J. Shen, K.W. Timothy, M.H. Lehmann, S. Priori, and J.L. Robinson Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 2000 1178 1185
3. C.E. Chiang, and D.M. Roden The long QT syndromes; genetic basis and clinical implications J. Am. Coll. Cardiol. 36 2000 1 12
4. J. Chen, A. Zou, I. Splawski, M.T. Keating, and M.C. Sanguinetti Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation J. Biol. Chem. 274 1999 10113 10118
5. +-channel dysfunction in an inherited cardiac arrhythmia Proc. Natl. Acad. Sci. USA 93 1996 2208 2212
6. T. Nakajima, T. Furukawa, Y. Hirano, T. Tanaka, H. Sakurada, and T. Takahashi Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQTS Cardiovasc. Res. 44 1999 283 293
7. M. Hiraoka Inherited arrhythmic disorders in Japan J. Cardiovasc. Electrophysiol. 14 2003 431 434
8. M. Berthet, I. Denjoy, C. Donger, L. Demay, H. Hammoude, and D. Klug C-terminal HERG mutations. The role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence Circulation 99 1999 1464 1470
9. + channel splice variant in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current J. Biol. Chem. 273 1998 27231 27235
10. T. Nakajima, M. Kurabayashi, Y. Ohyama, Y. Kaneko, T. Furukawa, and T. Itoh Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties FEBS Lett. 481 2000 197 203
11. E. Ficker, D. Thomas, P.C. Viswanathan, A.T. Dennis, S.G. Priori, and C. Napolitano Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome Am. J. Physiol. 279 2000 H1748 H1756
12. J. Cui, A. Kagan, D. Qin, J. Mathew, Y.F. Melman, and T.V. McDonald Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2 J. Biol. Chem. 276 2001 17244 17251
13. E. Aydar, and C. Palmer Functional characterization of the C-terminus of the human ether-a-go-go related gene K+ channel (HERG) J. Physiol. 534 2001 1 14
14. Z. Zhou, Q. Gong, B. Ye, Z. Fan, J.C. Makielski, and G.A. Robertson Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature Biophys. J. 74 1998 230 241
15. J.R. Ehrlich, M. Pourrier, M. Weerapura, N. Ethier, A.M. Marmabachi, and T.E. Hebert KvLQT1 modulates the distribution and biophysical properties of HERG. A novel alpha-subunit interaction between delayed rectifier currents J. Biol. Chem. 279 2004 1233 1241
16. S. Kupershmidt, T. Yang, S. Chanthaphaychith, Z. Wang, J.A. Towbin, and D.M. Roden Defective human ether-a-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus J. Biol. Chem. 277 2002 27442 27448
17. E.C. Roti, C.D. Myers, R.A. Ayers, D.E. Boatman, S.A. Delfosse, and E.K. Chan Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human ether-a-go-go-related gene J. Biol. Chem. 277 2002 47779 47785
18. Z. Zhou, Q. Gong, M.L. Epstein, and C.T. January HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects J. Biol. Chem. 273 1998 21061 21066
19. P.L. Smith, T. Baukrowitz, and G. Yellen The inward rectification mechanism of the HERG cardiac potassium channel Nature 379 1996 833 836
20. + channel during gating Neuron 16 1996 859 867
21. K. Hayashi, M. Shimizu, H. Ino, M. Yamaguchi, H. Mabuchi, and N. Hoshi Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome Cardiovasc. Res. 54 2002 67 76
22. + channels expressed in Xenopus oocytes reduces rectification by shifting the voltage dependence of inactivation J. Physiol. 509 1998 129 137
23. K.J. Paavonen, H. Chapman, P.J. Laitinen, H. Fodstad, K. Piippo, and H. Swan Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG) Cardiovasc. Res. 59 2003 603 611
24. T. Nakajima, T. Furukawa, T. Tanaka, Y. Katayama, R. Nagai, and Y. Nakamura Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation Circ. Res. 83 1998 415 422
25. C. Luo, and Y. Rudy A model of the ventricular cardiac action potential. Depolarization, repolarization, and their interaction Circ. Res. 68 1991 1501 1526
26. P.C. Viswanathan, R.M. Shaw, and Y. Rudy Effects of IKr and IKs heterogeneity on action potential duration and its rate dependence: a simulation study Circulation 99 1999 2466 2474