Dominant negative consequences of a hERG 1b-specific mutation associated with intrauterine fetal death

Altomare, 2015, IKr impact on repolarization and its variability assessed by dynamic-clamp, Circ. Arrhythm. Electrophysiol., 8, 1265, 10.1161/CIRCEP.114.002572 Anderson, 2006, Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism, Circulation, 113, 365, 10.1161/CIRCULATIONAHA.105.570200 Anderson, 2014, Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome, Nat. Commun., 5, 5535, 10.1038/ncomms6535 Crotti, 2013, Long QT syndrome-associated mutations in intrauterine fetal death, Jama, 309, 1473, 10.1001/jama.2013.3219 Doss, 2012, Maximum diastolic potential of human induced pluripotent stem cell-derived cardiomyocytes depends critically on I(Kr), PLoS One, 7, e40288, 10.1371/journal.pone.0040288 Freud, 1972, Transmembrane potential in isolated human heart, Cardiovasc Res., 6, 75, 10.1093/cvr/6.1.75 Gallacher, 2007, In vivo mechanisms precipitating torsades de pointes in a canine model of drug-induced long-QT1 syndrome, Cardiovasc Res., 76, 247, 10.1016/j.cardiores.2007.06.019 Gennser, 1970, Excitation and impulse conduction in the human fetal heart, Acta Physiol. Scand., 79, 305, 10.1111/j.1748-1716.1970.tb04731.x Gianulis, 2013, Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels, J. Gen. Physiol., 142, 351, 10.1085/jgp.201310995 Guo, 2009, Extracellular K+ concentration controls cell surface density of IKr in rabbit hearts and of the HERG channel in human cell lines, J. Clin. Invest, 119, 2745, 10.1172/JCI39027 Holzem, 2015, Reduced response to I blockade and altered hERG1a/1b stoichiometry in human heart failure, J. Mol. Cell Cardiol. Hondeghem, 2001, Instability and triangulation of the action potential predict serious proarrhythmia, but action potential duration prolongation is antiarrhythmic, Circulation, 103, 2004, 10.1161/01.CIR.103.15.2004 Hull, 2014, Regional flexibility in the S4-S5 linker regulates hERG channel closed-state stabilization, Pflugers Arch., 466, 1911, 10.1007/s00424-013-1431-9 Jacobson, 2011, Beat-by-beat QT interval variability, but not QT prolongation per se, predicts drug-induced torsades de pointes in the anaesthetised methoxamine-sensitized rabbit, J. Pharmacol. Toxicol. Methods, 63, 40, 10.1016/j.vascn.2010.04.010 Jezek, 1982, Basic electrophysiological parameters and frequency sensitivity of the ventricular myocardium of human embryos, Physiol. Bohemoslov., 31, 11 Jones, 2014, hERG 1b is critical for human cardiac repolarization, Proc. Natl. Acad. Sci. U. S. A., 111, 18073, 10.1073/pnas.1414945111 Jones, 2004, Cardiac IKr channels minimally comprise hERG 1a and 1b subunits, J. Biol. Chem., 279, 44690, 10.1074/jbc.M408344200 Jones, 2004, Expression of HERG1a and HERG1b subunits in the heart, Biophysical J., 86 Jost, 2013, Ionic mechanisms limiting cardiac repolarization reserve in humans compared to dogs, J. Physiol., 591, 4189, 10.1113/jphysiol.2013.261198 Kesteven, 1946, The coefficient of variation, Nature, 158, 520, 10.1038/158520c0 Kong, 2010, Translational potential of human embryonic and induced pluripotent stem cells for myocardial repair: insights from experimental models, Thromb. Haemost., 104, 30, 10.1160/TH10-03-0189 Larsen, 2010, Differential expression of hERG1 channel isoforms reproduces properties of native I(Kr) and modulates cardiac action potential characteristics, PLoS One, 5, e9021, 10.1371/journal.pone.0009021 Lees-Miller, 2003, Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia, Mol. Cell Biol., 23, 1856, 10.1128/MCB.23.6.1856-1862.2003 Lees-Miller, 1997, Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts, Circ. Res., 81, 719, 10.1161/01.RES.81.5.719 Liang, 2013, Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity, Circulation, 127, 1677, 10.1161/CIRCULATIONAHA.113.001883 Lieu, 2013, Mechanism-based facilitated maturation of human pluripotent stem cell-derived cardiomyocytes, Circ. Arrhythm. Electrophysiol., 6, 191, 10.1161/CIRCEP.111.973420 London, 1997, Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current, Circ. Res., 81, 870, 10.1161/01.RES.81.5.870 McPate, 2009, hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome, Biochem. Biophys. Res. Commun., 386, 111, 10.1016/j.bbrc.2009.05.134 Morais Cabral, 1998, Crystal structure and functional analysis of the HERG potassium channel N terminus: a eukaryotic PAS domain, Cell, 95, 649, 10.1016/S0092-8674(00)81635-9 Mummery, 2003, Differentiation of human embryonic stem cells to cardiomyocytes: role of coculture with visceral endoderm-like cells, Circulation, 107, 2733, 10.1161/01.CIR.0000068356.38592.68 Murphy, 2012, Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia, Heart rhythm.., 9, 590, 10.1016/j.hrthm.2011.11.006 Ng, 2014, Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels, J. Biol. Chem., 289, 25822, 10.1074/jbc.M114.558379 Nekouzadeh, 2016, Conformational changes of an ion-channel during gating and emerging electrophysiologic properties: application of a computational approach to cardiac Kv7.1, Prog. Biophys. Mol. Biol., 120, 18, 10.1016/j.pbiomolbio.2015.12.014 Peter, 2016, Triggers for arrhythmogenesis in the Brugada and long QT 3 syndromes, Prog. Biophys. Mol. Biol., 120, 77, 10.1016/j.pbiomolbio.2015.12.009 Phartiyal, 2007, Heteromeric assembly of hERG 1a and 1b subunits occurs cotranslationally via amino terminal interactions, J. Biol. Chem., 282, 9874, 10.1074/jbc.M610875200 Phartiyal, 2008, ER retention and rescue by heteromeric assembly regulate hERG 1a/1b surface channel composition, J. Biol. Chem., 283, 3702, 10.1074/jbc.M708999200 Sale, 2008, Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome, Circ. Res., 103, e81, 10.1161/CIRCRESAHA.108.185249 Saul, 2014, Rationale and objectives for ECG screening in infancy, Heart rhythm.., 11, 2316, 10.1016/j.hrthm.2014.09.047 Snyders, 1996, High affinity open channel block by dofetilide of HERG expressed in a human cell line, Mol. Pharmacol., 49, 949 Trudeau, 2011, hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome, J. Gen. Physiol., 138, 581, 10.1085/jgp.201110683 Trudeau, 1995, HERG, a human inward rectifier in the voltage-gated potassium channel family, Science, 269, 92, 10.1126/science.7604285 Tuganowski, 1971, Electrical activity of a single fibre of the human embryonic heart, Pflugers Arch., 323, 21, 10.1007/BF00586562 Wang, 2000, Dynamic control of deactivation gating by a soluble amino-terminal domain in HERG K(+) channels, J. Gen. Physiol., 115, 749, 10.1085/jgp.115.6.749 Wang, 1998, Regulation of deactivation by an amino terminal domain in human ether-a- go-go-related gene potassium channels [published erratum appears in J Gen Physiol 1999 Feb;113(2):359], J. Gen. Physiol., 112, 637, 10.1085/jgp.112.5.637 Xu, 2003, Effects of bafilomycin A1: an inhibitor of vacuolar H (+)-ATPases on endocytosis and apoptosis in RAW cells and RAW cell-derived osteoclasts, J. Cell Biochem., 88, 1256, 10.1002/jcb.10477 Zhang, 2012, Modulation of hERG potassium channel gating normalizes action potential duration prolonged by dysfunctional KCNQ1 potassium channel, Proc. Natl. Acad. Sci. U. S. A., 109, 11866, 10.1073/pnas.1205266109 Zhang, 2009, Functional cardiomyocytes derived from human induced pluripotent stem cells, Circ. Res., 104, e30, 10.1161/CIRCRESAHA.108.192237 Zhou, 1998, HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects, J. Biol. Chem., 273, 21061, 10.1074/jbc.273.33.21061 Zhou, 1998, Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature, Biophys. J., 74, 230, 10.1016/S0006-3495(98)77782-3 Ziupa, 2014, Pronounced effects of HERG-blockers E-4031 and erythromycin on APD, spatial APD dispersion and triangulation in transgenic long-QT type 1 rabbits, PLoS One, 9, e107210, 10.1371/journal.pone.0107210