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Volumn 111, Issue 4, 2003, Pages 497-505

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; CYSTINE; LEUCINE; VALINE;

EID: 0037329589     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI16997     Document Type: Article
Times cited : (70)

References (43)
  • 1
    • 0002622227 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes
    • A.G. Engel, editor. Oxford University Press. New York, New York, USA
    • Engel, A.G., Ohno, K., and Sine, S.M. 1999. Congenital myasthenic syndromes. In Myasthenia gravis and myasthenic disorders. A.G. Engel, editor. Oxford University Press. New York, New York, USA. 251-297.
    • (1999) Myasthenia Gravis and Myasthenic Disorders , pp. 251-297
    • Engel, A.G.1    Ohno, K.2    Sine, S.M.3
  • 2
    • 0036359457 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Genetic defects at the neuromuscular junction
    • Ohno, K., and Engel, A.G. 2002. Congenital myasthenic syndromes: genetic defects at the neuromuscular junction. Curr. Neurol. Neurosci. Rep. 2:78-88.
    • (2002) Curr. Neurol. Neurosci. Rep. , vol.2 , pp. 78-88
    • Ohno, K.1    Engel, A.G.2
  • 3
    • 0036206747 scopus 로고    scopus 로고
    • Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome
    • Ohno, K., et al. 2002. Rapsyn mutations in humans cause endplate acetylcholine receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70:875-885.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 875-885
    • Ohno, K.1
  • 4
    • 15844429136 scopus 로고    scopus 로고
    • Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
    • Ohno, K., et al. 1996. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit. Neuron. 17:157-170.
    • (1996) Neuron , vol.17 , pp. 157-170
    • Ohno, K.1
  • 5
    • 0036795364 scopus 로고    scopus 로고
    • Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating
    • Sine, S.M., et al. 2002. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J. Gen. Physiol. 120:483-496.
    • (2002) J. Gen. Physiol. , vol.120 , pp. 483-496
    • Sine, S.M.1
  • 6
    • 0034932799 scopus 로고    scopus 로고
    • Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
    • doi:10.1172/JCI200112935
    • Brownlow, S., et al. 2001. Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest. 108:125-130. doi:10.1172/JCI200112935.
    • (2001) J. Clin. Invest. , vol.108 , pp. 125-130
    • Brownlow, S.1
  • 7
    • 0033363317 scopus 로고    scopus 로고
    • Acetylcholine receptor M3 domain: Stereochemical and volume contributions to channel gating
    • Wang, H.-L., et al. 1999. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat. Neurosci. 2:226-233.
    • (1999) Nat. Neurosci. , vol.2 , pp. 226-233
    • Wang, H.-L.1
  • 8
    • 0032031997 scopus 로고    scopus 로고
    • Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit
    • Milone, M., et al. 1998. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit. Neuron. 20:575-588.
    • (1998) Neuron , vol.20 , pp. 575-588
    • Milone, M.1
  • 9
    • 0033811495 scopus 로고    scopus 로고
    • Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
    • Wang, H.-L., et al. 2000. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J. Gen. Physiol. 116:449-460.
    • (2000) J. Gen. Physiol. , vol.116 , pp. 449-460
    • Wang, H.-L.1
  • 10
    • 0035172258 scopus 로고    scopus 로고
    • LGICdb: The ligand-gated ion channel database
    • Le Novere, N., and Changeux, J.-P. 2001. LGICdb: the ligand-gated ion channel database. Nucleic Acids Res. 29:294-295.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 294-295
    • Le Novere, N.1    Changeux, J.-P.2
  • 11
    • 0021929401 scopus 로고
    • Location of functional regions of acetylcholine receptor alpha-subunit by site directed mutagenesis
    • Mishina, M., et al. 1985. Location of functional regions of acetylcholine receptor alpha-subunit by site directed mutagenesis. Nature. 313:364-369.
    • (1985) Nature , vol.313 , pp. 364-369
    • Mishina, M.1
  • 12
    • 0029969731 scopus 로고    scopus 로고
    • Asymmetric contribution of the conserved disulfide loop to subunit oligomerization and assembly of the nicotinic acetylcholine receptor
    • Fu, D.-X., and Sine, S.M. 1996. Asymmetric contribution of the conserved disulfide loop to subunit oligomerization and assembly of the nicotinic acetylcholine receptor. J. Biol. Chem. 271:31479-31484.
    • (1996) J. Biol. Chem. , vol.271 , pp. 31479-31484
    • Fu, D.-X.1    Sine, S.M.2
  • 13
    • 0030858667 scopus 로고    scopus 로고
    • The role of the cystine loop in acetylcholine receptor assembly
    • Green, W.N., and Wanamaker, C.P. 1997. The role of the cystine loop in acetylcholine receptor assembly. J. Biol. Chem. 272:20945-20953.
    • (1997) J. Biol. Chem. , vol.272 , pp. 20945-20953
    • Green, W.N.1    Wanamaker, C.P.2
  • 14
    • 0025605063 scopus 로고
    • Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly
    • Blount, P., and Merlie, J.P. 1990. Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly. J. Cell. Biol. 111:2613-2622.
    • (1990) J. Cell. Biol. , vol.111 , pp. 2613-2622
    • Blount, P.1    Merlie, J.P.2
  • 15
    • 0026709052 scopus 로고
    • Assembly of mutant subunits of the acetylcholine receptor lacking the conserved disulfide loop structure
    • Sumikawa, K., and Gehle, V.M. 1992. Assembly of mutant subunits of the acetylcholine receptor lacking the conserved disulfide loop structure. J. Biol. Chem. 267:6286-6290.
    • (1992) J. Biol. Chem. , vol.267 , pp. 6286-6290
    • Sumikawa, K.1    Gehle, V.M.2
  • 16
    • 0030571057 scopus 로고    scopus 로고
    • A conserved disulfide loop facilitates conformational maturation in the subunits of the acetylcholine receptor
    • Walcott, E.C., and Sumikawa, K. 1996. A conserved disulfide loop facilitates conformational maturation in the subunits of the acetylcholine receptor. Brain Res. Mol. Brain Res. 41:289-300.
    • (1996) Brain Res. Mol. Brain Res. , vol.41 , pp. 289-300
    • Walcott, E.C.1    Sumikawa, K.2
  • 17
    • 0022527652 scopus 로고
    • Evidence that the acetylcholine binding site is not formed by the sequence α 127-143 of the acetylcholine receptor
    • Criado, M., Sarin, V., Fox, J.L., and Lindstrom, J. 1986. Evidence that the acetylcholine binding site is not formed by the sequence α 127-143 of the acetylcholine receptor. Biochemistry. 25:2839-2846.
    • (1986) Biochemistry , vol.25 , pp. 2839-2846
    • Criado, M.1    Sarin, V.2    Fox, J.L.3    Lindstrom, J.4
  • 18
    • 0035902009 scopus 로고    scopus 로고
    • Crystal structure of ACh-binding protein reveals the ligand-binding domain of nicotinic receptors
    • Brejc, K., et al. 2001. Crystal structure of ACh-binding protein reveals the ligand-binding domain of nicotinic receptors. Nature. 411:269-276.
    • (2001) Nature , vol.411 , pp. 269-276
    • Brejc, K.1
  • 19
    • 0027301105 scopus 로고
    • Congenital endplate acetylcholinesterase deficiency
    • Hutchinson, D.O., et al. 1993. Congenital endplate acetylcholinesterase deficiency. Brain. 116:633-653.
    • (1993) Brain , vol.116 , pp. 633-653
    • Hutchinson, D.O.1
  • 20
    • 0000780544 scopus 로고
    • The muscle biopsy
    • A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill Inc. New York, New York, USA
    • Engel, A.G. 1994. The muscle biopsy. In Myology. A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill Inc. New York, New York, USA. 822-831.
    • (1994) Myology , pp. 822-831
    • Engel, A.G.1
  • 21
    • 0000287048 scopus 로고
    • Quantitative morphological studies of muscle
    • A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill Inc. New York, New York, USA
    • Engel, A.G. 1994. Quantitative morphological studies of muscle. In Myology. A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill Inc. New York, New York, USA. 1018-1045.
    • (1994) Myology , pp. 1018-1045
    • Engel, A.G.1
  • 22
    • 0017749807 scopus 로고
    • Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model
    • Engel, A.G., Lindstrom, J.M., Lambert, E.H., and Lennon, V.A. 1977. Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model. Neurology. 27:307-315.
    • (1977) Neurology , vol.27 , pp. 307-315
    • Engel, A.G.1    Lindstrom, J.M.2    Lambert, E.H.3    Lennon, V.A.4
  • 23
    • 0027501444 scopus 로고
    • Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor
    • Engel, A.G., Nagel, A., Walls, T.J., Harper, C.M., and Waisburg, H.A. 1993. Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor. Muscle Nerve. 16:1284-1292.
    • (1993) Muscle Nerve , vol.16 , pp. 1284-1292
    • Engel, A.G.1    Nagel, A.2    Walls, T.J.3    Harper, C.M.4    Waisburg, H.A.5
  • 24
    • 0027376417 scopus 로고
    • Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor
    • Uchitel, O., et al. 1993. Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve. 16:1293-1301.
    • (1993) Muscle Nerve , vol.16 , pp. 1293-1301
    • Uchitel, O.1
  • 25
    • 76549163887 scopus 로고
    • A quantitative study of end-plate potentials in isolated human muscle
    • Elmqvist, D., and Quastel, D.M.J. 1965. A quantitative study of end-plate potentials in isolated human muscle. J. Physiol. (Lond.) 178:505-529.
    • (1965) J. Physiol. (Lond.) , vol.178 , pp. 505-529
    • Elmqvist, D.1    Quastel, D.M.J.2
  • 26
    • 0028019282 scopus 로고
    • Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
    • Milone, M., Hutchinson, D.O., and Engel, A.G. 1994. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve. 17:1364-1369.
    • (1994) Muscle Nerve , vol.17 , pp. 1364-1369
    • Milone, M.1    Hutchinson, D.O.2    Engel, A.G.3
  • 27
    • 0028821376 scopus 로고
    • Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
    • Ohno, K., et al. 1995. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit. Proc. Natl. Acad. Sci. USA. 92:758-762.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 758-762
    • Ohno, K.1
  • 28
    • 0023834181 scopus 로고
    • The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA
    • Schoepfer, R., Luther, M.A., and Lindstrom, J. 1988. The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. FEBS Lett. 226:235-240.
    • (1988) FEBS Lett. , vol.226 , pp. 235-240
    • Schoepfer, R.1    Luther, M.A.2    Lindstrom, J.3
  • 29
    • 0024596553 scopus 로고
    • A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671
    • Luther, M.A., et al. 1989. A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. J. Neurosci. 9:1082-1096.
    • (1989) J. Neurosci. , vol.9 , pp. 1082-1096
    • Luther, M.A.1
  • 30
    • 8244225989 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations
    • Ohno, K., et al. 1997. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations. Hum. MoL Genet. 6:753-766.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 753-766
    • Ohno, K.1
  • 31
    • 0028600111 scopus 로고
    • Structural basis of different gating kinetics of fetal and adult acetylcholine receptors
    • Bouzat, C., Bren, N., and Sine, S.M. 1994. Structural basis of different gating kinetics of fetal and adult acetylcholine receptors. Neuron. 13:1395-1402.
    • (1994) Neuron , vol.13 , pp. 1395-1402
    • Bouzat, C.1    Bren, N.2    Sine, S.M.3
  • 32
    • 0019215162 scopus 로고
    • Single acetylcholine-activated channels show burst kinetics in the presence of desensitizing concentrations of agonist
    • Sakmann, B., Patlak, J., and Neher, E. 1980. Single acetylcholine-activated channels show burst kinetics in the presence of desensitizing concentrations of agonist. Nature. 286:71-73.
    • (1980) Nature , vol.286 , pp. 71-73
    • Sakmann, B.1    Patlak, J.2    Neher, E.3
  • 33
    • 0030061670 scopus 로고    scopus 로고
    • Estimating single-channel kinetic parameters from idealized patch-clamp data containing missed events
    • Qin, F., Auerbach, A., and Sachs, F. 1996. Estimating single-channel kinetic parameters from idealized patch-clamp data containing missed events. Biophys. J. 70:264-280.
    • (1996) Biophys. J. , vol.70 , pp. 264-280
    • Qin, F.1    Auerbach, A.2    Sachs, F.3
  • 34
    • 0030906795 scopus 로고    scopus 로고
    • Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation
    • Wang, H.-L., et al. 1997. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J. Gen. Physiol. 109:757-766.
    • (1997) J. Gen. Physiol. , vol.109 , pp. 757-766
    • Wang, H.-L.1
  • 35
    • 0021155082 scopus 로고
    • Expression of functional acetylcholine receptor from cloned cDNAs
    • Mishina, M., et al. 1984. Expression of functional acetylcholine receptor from cloned cDNAs. Nature. 307:604-608.
    • (1984) Nature , vol.307 , pp. 604-608
    • Mishina, M.1
  • 36
    • 0032722151 scopus 로고    scopus 로고
    • Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly
    • Quiram, P., et al. 1999. Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly. J. Clin. Invest 104:1403-1410.
    • (1999) J. Clin. Invest. , vol.104 , pp. 1403-1410
    • Quiram, P.1
  • 37
    • 0000410893 scopus 로고
    • The principles of the stochastic interpretation of ion channel mechanisms
    • B. Sakmann and E. Neher, editors. Plenum Press. New York, New York, USA
    • Colquhoun, D., and Hawkes, A.G. 1995. The principles of the stochastic interpretation of ion channel mechanisms. In Single-channel recording. B. Sakmann and E. Neher, editors. Plenum Press. New York, New York, USA. 397-482.
    • (1995) Single-Channel Recording , pp. 397-482
    • Colquhoun, D.1    Hawkes, A.G.2
  • 38
    • 0032799789 scopus 로고    scopus 로고
    • The temperature sensitivity of miniature endplate currents is mostly governed by channel gating: Evidence from optimized recordings and Monte Carlo simulations
    • Stiles, J.R., Kovyazina, I.V., Salpeter, E.E., and Salpeter, M.M. 1999. The temperature sensitivity of miniature endplate currents is mostly governed by channel gating: evidence from optimized recordings and Monte Carlo simulations. Biophys. J. 77:1177-1187.
    • (1999) Biophys. J. , vol.77 , pp. 1177-1187
    • Stiles, J.R.1    Kovyazina, I.V.2    Salpeter, E.E.3    Salpeter, M.M.4
  • 39
    • 0029904436 scopus 로고    scopus 로고
    • Miniature endplate current rise times <100 μs from improved dual recordings can be modeled with passive acetylcholine diffusion from a synaptic vesicle
    • Stiles, J.R., Van Helden, D., Bartol, T.M., Salpeter, E.E., and Salpeter, M.M. 1996. Miniature endplate current rise times <100 μs from improved dual recordings can be modeled with passive acetylcholine diffusion from a synaptic vesicle. Proc. Natl. Acad. Sci. USA. 93:5747-5752.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 5747-5752
    • Stiles, J.R.1    Van Helden, D.2    Bartol, T.M.3    Salpeter, E.E.4    Salpeter, M.M.5
  • 40
    • 0037047296 scopus 로고    scopus 로고
    • Lysine scanning mutagenesis delineates structure of nicotinic receptor binding domain
    • Sine, S.M., Wang, H.-L., and Bren, N. 2002. Lysine scanning mutagenesis delineates structure of nicotinic receptor binding domain. J. Biol. Chem. 277:29210-29223.
    • (2002) J. Biol. Chem. , vol.277 , pp. 29210-29223
    • Sine, S.M.1    Wang, H.-L.2    Bren, N.3
  • 41
    • 0035902019 scopus 로고    scopus 로고
    • Snails, synapses and smokers
    • Dougherty, D.A., and Lester, H.A. 2001. Snails, synapses and smokers. Nature. 411:252-253.
    • (2001) Nature , vol.411 , pp. 252-253
    • Dougherty, D.A.1    Lester, H.A.2
  • 42
    • 0036304564 scopus 로고    scopus 로고
    • Activation of the nicotinic acetylcholine receptor involves a switch in conformation of the α subunits
    • Unwin, N., Miyazawa, A., Li, J., and Fujiyoshy, Y. 2002. Activation of the nicotinic acetylcholine receptor involves a switch in conformation of the α subunits. J. Mol. Biol. 319:1165-1176.
    • (2002) J. Mol. Biol. , vol.319 , pp. 1165-1176
    • Unwin, N.1    Miyazawa, A.2    Li, J.3    Fujiyoshy, Y.4
  • 43
    • 0032514762 scopus 로고    scopus 로고
    • From ab initio quantum mechanics to molecular neurobiology: A cation-π binding site in the nicotinic receptor
    • Zhong, W., et al. 1998. From ab initio quantum mechanics to molecular neurobiology: a cation-π binding site in the nicotinic receptor. Proc. Natl. Acad. Sci. USA. 95:12088-12093.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 12088-12093
    • Zhong, W.1


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