Impaired interaction between the slide helix and the C-terminus of Kir2.1: A novel mechanism of Andersen syndrome

Cardiovascular Research

Volumn 75, Issue 4, 2007, Pages 748-757

  Decher, Niels ^b,c   Renigunta, Vijay ^c   Zuzarte, Marylou ^c   Soom, Malle ^d   Heinemann, Stefan H ^d   Timothy, Katherine W ^a   Keating, Mark T ^a   Daut, Jürgen ^c   Sanguinetti, Michael C ^b   Splawski, Igor ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Andersen syndrome; Arrhythmia; LQT syndrome; Potassium channels

Indexed keywords

HELIX LOOP HELIX PROTEIN; INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANDERSEN SYNDROME; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL ASSAY; CELL STRAIN HEK293; CHANNEL GATING; CHEMOLUMINESCENCE; CONTROLLED STUDY; EMBRYO; FLUORESCENCE MICROSCOPY; GENE MUTATION; HUMAN; HUMAN CELL; HYBRID CELL; HYDROPHILICITY; IN VITRO STUDY; INTRACELLULAR RECORDING; LONG QT SYNDROME; MUTATIONAL ANALYSIS; NONHUMAN; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; VOLTAGE CLAMP; XENOPUS LAEVIS;

ADULT; ANDERSEN SYNDROME; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HUMANS; ION CHANNEL GATING; MICROSCOPY, FLUORESCENCE; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; TWO-HYBRID SYSTEM TECHNIQUES; XENOPUS;

EID: 34547770295     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2007.05.010     Document Type: Article

References (37)

1. Canun S., Perez N., and Beirana L.G. Andersen syndrome autosomal dominant in three generations. Am J Med Genet 85 (1999) 147-156
2. Sansone V., Griggs R.C., Meola G., Ptacek L.J., Barohn R., Iannaccone S., et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 42 (1997) 305-312
3. Tawil R., Ptacek L.J., Pavlakis S.G., DeVivo D.C., Penn A.S., Ozdemir C., et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 35 (1994) 326-330
4. Andersen E.D., Krasilnikoff P.A., and Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?. Acta Paediatr Scand 60 (1971) 559-564
5. Tristani-Firouzi M., Jensen J.L., Donaldson M.R., Sansone V., Meola G., Hahn A., et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110 (2002) 381-388
6. Hosaka Y., Hanawa H., Washizuka T., Chinushi M., Yamashita F., Yoshida T., et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol 35 (2003) 409-415
7. Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 (2001) 511-519
8. Bendahhou S., Donaldson M.R., Plaster N.M., Tristani-Firouzi M., Fu Y.H., and Ptacek L.J. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem 278 (2003) 51779-51785
9. Lopes C.M., Zhang H., Rohacs T., Jin T., Yang J., and Logothetis D.E. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 34 (2002) 933-944
10. 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 60 (2003) 1811-1816
11. Tinker A., Jan Y.N., and Jan L.Y. Regions responsible for the assembly of inwardly rectifying potassium channels. Cell 87 (1996) 857-868
12. + channel proteins via their N-terminal end. FEBS Lett 378 (1996) 64-68
13. +-mediated vasodilation. Circ Res 87 (2000) 160-166
14. Preisig-Müller R., Schlichthörl G., Goerge T., Heinen S., Brüggemann A., Rajan S., et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A 99 (2002) 7774-7779
15. + channel subunits co-assemble: a potential new contributor to inward rectifier current heterogeneity. J Physiol 544 (2002) 337-349
16. Kuo A., Gulbis J.M., Antcliff J.F., Rahman T., Lowe E.D., Zimmer J., et al. Crystal structure of the potassium channel KirBac1.1 in the closed state. Science 300 (2003) 1922-1926
17. Andelfinger G., Tapper A.R., Welch R.C., Vanoye C.G., George Jr. A.L., and Benson D.W. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71 (2002) 663-668
18. + channel gene KCNJ2 constitute a rare cause of long QT syndrome. J Mol Cell Cardiol 37 (2004) 593-602
19. Davies N.P., Imbrici P., Fialho D., Herd C., Bilsland L.G., Weber A., et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 65 (2005) 1083-1089
20. Ballester L.Y., Benson D.W., Wong B., Law I.H., Mathews K.D., Vanoye C.G., et al. Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat 27 (2006) 388
21. Yoon G., Oberoi S., Tristani-Firouzi M., Etheridge S.P., Quitania L., Kramer J.H., et al. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A 140 (2006) 312-321
22. Renigunta V., Yuan H., Zuzarte M., Rinne S., Koch A., Wischmeyer E., et al. The retention factor p11 confers an endoplasmic reticulum-localization signal to the potassium channel TASK-1. Traffic 7 (2006) 168-181
23. Zerangue N., Schwappach B., Jan Y.N., and Jan L.Y. A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 22 (1999) 537-548
24. 2 binding sites in Kir2.1 inwardly rectifying potassium channels. FEBS Lett 490 (2001) 49-53
25. Kubo Y., Baldwin T.J., Jan Y.N., and Jan L.Y. Primary structure and functional expression of a mouse inward rectifier potassium channel. Nature 362 (1993) 127-133
26. Morishige K., Takahashi N., Findlay I., Koyama H., Zanelli J.S., Peterson C., et al. Molecular cloning, functional expression and localization of an inward rectifier potassium channel in the mouse brain. FEBS Lett 336 (1993) 375-380
27. Nichols C.G., and Lopatin A.N. Inward rectifier potassium channels. Annu Rev Physiol 59 (1997) 171-191
28. Robertson G.A., and January C.T. HERG trafficking and pharmacological rescue of LQTS-2 mutant channels. Handb Exp Pharmacol (2006) 349-355
29. Smit L.S., Strong T.V., Wilkinson D.J., Macek M., Mansoura M.K., Wood D.L., et al. Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum Mol Genet 4 (1995) 269-273
30. Dickinson P., Smith S.N., Webb S., Kilanowski F.M., Campbell I.J., Taylor M.S., et al. The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Hum Mol Genet 11 (2002) 243-251
31. Pegan S., Arrabit C., Slesinger P.A., and Choe S. Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1. Biochemistry 45 (2006) 8599-8606
32. Peters M., Ermert S., Jeck N., Derst C., Pechmann U., Weber S., et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 64 (2003) 923-932
33. Konrad M., Leonhardt A., Hensen P., Seyberth H.W., and Köckerling A. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 103 (1999) 678-683
34. Miraglia Del Giudice E., Coppola G., Bellini G., Ledaal P., Hertz J.M., and Pascotto A. A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia. J Med Genet 40 (2003) e71
35. Lange P.S., Er F., Gassanov N., and Hoppe U.C. Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. Cardiovasc Res 59 (2003) 321-327
36. Ai T., Fujiwara Y., Tsuji K., Otani H., Nakano S., Kubo Y., et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 105 (2002) 2592-2594
37. ATP channels as molecular sensors of cellular metabolism. Nature 440 (2006) 470-476