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Volumn 60, Issue 6, 1997, Pages 1316-1325

Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage- dependent calcium-channel receptor in skeletal muscle

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; DIHYDROPYRIDINE; RYANODINE RECEPTOR;

EID: 0030922550     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515454     Document Type: Article
Times cited : (371)

References (52)
  • 1
    • 0010452459 scopus 로고
    • Nifedipine block of cardiac calcium channels: High affinity binding to the inactivated state
    • Bean BP (1984) Nifedipine block of cardiac calcium channels: high affinity binding to the inactivated state. Proc Natl Acad Sci USA 81:6388-6392
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 6388-6392
    • Bean, B.P.1
  • 2
    • 0024280869 scopus 로고
    • Structure and function of voltage-sensitive ion channels
    • Catterall WA (1988) Structure and function of voltage-sensitive ion channels. Science 242:50-61
    • (1988) Science , vol.242 , pp. 50-61
    • Catterall, W.A.1
  • 3
    • 0023277545 scopus 로고
    • Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 4
    • 0342351762 scopus 로고
    • Subunits of purified calcium channels: A 212-kDa form of α1-and partial amino acid sequence of a phosphorylation site of an independent β subunit
    • De Jongh KS, Merrick DK, Catterall WA (1989) Subunits of purified calcium channels: a 212-kDa form of α1-and partial amino acid sequence of a phosphorylation site of an independent β subunit. Proc Natl Acad Sci USA 86:8585-8589
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8585-8589
    • De Jongh, K.S.1    Merrick, D.K.2    Catterall, W.A.3
  • 5
    • 0025840253 scopus 로고
    • Characterization of the two forms of the α1-subunit of skeletal muscle L-type calcium channels
    • De Jongh KS, Warner C, Colvin AA, Catterall WA (1991) Characterization of the two forms of the α1-subunit of skeletal muscle L-type calcium channels. Proc Natl Acad Sci USA 88:10778-10782
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10778-10782
    • De Jongh, K.S.1    Warner, C.2    Colvin, A.A.3    Catterall, W.A.4
  • 8
    • 0021149183 scopus 로고
    • A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility
    • European Malignant Hyperpyrexia Group (1984) A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267-1269
    • (1984) Br J Anaesth , vol.56 , pp. 1267-1269
  • 9
    • 0026246360 scopus 로고
    • A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia
    • Gillard EF, Otsu K, Fujii J, Khanna VK, DeLeon S, Derdemezi J, Britt BA, et al (1991) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11:751-755
    • (1991) Genomics , vol.11 , pp. 751-755
    • Gillard, E.F.1    Otsu, K.2    Fujii, J.3    Khanna, V.K.4    DeLeon, S.5    Derdemezi, J.6    Britt, B.A.7
  • 11
    • 0027532167 scopus 로고
    • Assignment of the human gene for the α1-subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32
    • Gregg RG, Couch F, Hogan K, Powers PA (1993a) Assignment of the human gene for the α1-subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics 15:107-112
    • (1993) Genomics , vol.15 , pp. 107-112
    • Gregg, R.G.1    Couch, F.2    Hogan, K.3    Powers, P.A.4
  • 12
    • 0027474809 scopus 로고
    • Assignment of the human gene for the β subunit of the voltage dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping
    • Gregg R, Powers P, Hogan K (1993b) Assignment of the human gene for the β subunit of the voltage dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. Genomics 15:186-187
    • (1993) Genomics , vol.15 , pp. 186-187
    • Gregg, R.1    Powers, P.2    Hogan, K.3
  • 13
    • 0030064359 scopus 로고    scopus 로고
    • The structure of the gene encoding the human skeletal muscle α1-subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
    • Hogan K, Gregg RG, Powers PA (1996) The structure of the gene encoding the human skeletal muscle α1-subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 31:392-394
    • (1996) Genomics , vol.31 , pp. 392-394
    • Hogan, K.1    Gregg, R.G.2    Powers, P.A.3
  • 14
    • 0028596932 scopus 로고
    • Cloning of the human muscle α1-subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
    • Hogan K, Powers PA, Gregg RC (1994) Cloning of the human muscle α1-subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 24:608-609
    • (1994) Genomics , vol.24 , pp. 608-609
    • Hogan, K.1    Powers, P.A.2    Gregg, R.C.3
  • 15
    • 0028243282 scopus 로고
    • Localization of the gene encoding the α2/δ subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
    • Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Weghuis DO, Suijkerbuijk RF, Heytens L, et al (1994a) Localization of the gene encoding the α2/δ subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 3:969-975
    • (1994) Hum Mol Genet , vol.3 , pp. 969-975
    • Iles, D.E.1    Lehmann-Horn, F.2    Scherer, S.W.3    Tsui, L.C.4    Weghuis, D.O.5    Suijkerbuijk, R.F.6    Heytens, L.7
  • 16
    • 0026574597 scopus 로고
    • High-resolution physical mapping of four microsatellite repeat markers near the RYRl locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families
    • Iles DE, Segers B, Heytens L, Sengers RCA, Wieringa B (1992) High-resolution physical mapping of four microsatellite repeat markers near the RYRl locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families. Genomics 14:749-754
    • (1992) Genomics , vol.14 , pp. 749-754
    • Iles, D.E.1    Segers, B.2    Heytens, L.3    Sengers, R.C.A.4    Wieringa, B.5
  • 17
    • 0028195084 scopus 로고
    • Refined localization of the α1-subunit of the skeletal muscle L-type voltage dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization
    • Iles DE, Segers B, Olde Weghuis D, Suijkerbuijk R, Mikala G, Schwartz A, Wieringa B (1994b) Refined localization of the α1-subunit of the skeletal muscle L-type voltage dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization. Genomics 19:561-563
    • (1994) Genomics , vol.19 , pp. 561-563
    • Iles, D.E.1    Segers, B.2    Olde Weghuis, D.3    Suijkerbuijk, R.4    Mikala, G.5    Schwartz, A.6    Wieringa, B.7
  • 18
    • 0027279886 scopus 로고
    • Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
    • Iles DE, Segers B, Sengers RCA, Monsieur K, Heytens L, Halsall PJ, Hopkins PM, et al (1993) Genetic mapping of the β1- and γ-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum Mol Genet 2:863-868
    • (1993) Hum Mol Genet , vol.2 , pp. 863-868
    • Iles, D.E.1    Segers, B.2    Sengers, R.C.A.3    Monsieur, K.4    Heytens, L.5    Halsall, P.J.6    Hopkins, P.M.7
  • 19
    • 0023665343 scopus 로고
    • A rapid method for the purification of DNA from blood
    • Jeanpierre M (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Res 15:9611
    • (1987) Nucleic Acids Res , vol.15 , pp. 9611
    • Jeanpierre, M.1
  • 21
    • 0027365803 scopus 로고
    • Identification of 1,4-dihydropyridine binding domains within the primary structure of the α1-subunit of the skeletal muscle L-type calcium channel
    • Kalasz H, Watanabe T, Yabana H, Itagaki K, Naito K, Nakayama H, Schwartz A, et al (1993) Identification of 1,4-dihydropyridine binding domains within the primary structure of the α1-subunit of the skeletal muscle L-type calcium channel. FEBS Lett 331:177-181
    • (1993) FEBS Lett , vol.331 , pp. 177-181
    • Kalasz, H.1    Watanabe, T.2    Yabana, H.3    Itagaki, K.4    Naito, K.5    Nakayama, H.6    Schwartz, A.7
  • 22
    • 0002341455 scopus 로고
    • Inheritance of malignant hyperthermia - A review of published data
    • Britt BA (ed) Martinus-Nijhoff, Amsterdam and Boston
    • Kalow W (1987) Inheritance of malignant hyperthermia - a review of published data. In: Britt BA (ed) Malignant hyperthermia. Martinus-Nijhoff, Amsterdam and Boston, pp 155-180
    • (1987) Malignant Hyperthermia , pp. 155-180
    • Kalow, W.1
  • 24
    • 0024790479 scopus 로고
    • Standardization of the caffeine halothane muscle contracture test
    • Larach M (1989) Standardization of the caffeine halothane muscle contracture test. Anesth Analg 69:511-515
    • (1989) Anesth Analg , vol.69 , pp. 511-515
    • Larach, M.1
  • 25
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 26
    • 0025107511 scopus 로고
    • Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
    • Lehmann-Horn F, Iaizzo PA (1990) Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth 65:692-697
    • (1990) Br J Anaesth , vol.65 , pp. 692-697
    • Lehmann-Horn, F.1    Iaizzo, P.A.2
  • 27
    • 0026526444 scopus 로고
    • Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q
    • Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA (1992) Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics 14:562-566
    • (1992) Genomics , vol.14 , pp. 562-566
    • Levitt, R.C.1    Olckers, A.2    Meyers, S.3    Fletcher, J.E.4    Rosenberg, H.5    Isaacs, H.6    Meyers, D.A.7
  • 29
    • 0026556355 scopus 로고
    • Malignant hyperthermia
    • MacLennan DH, Phillips M (1992) Malignant hyperthermia. Science 256:789-794
    • (1992) Science , vol.256 , pp. 789-794
    • MacLennan, D.H.1    Phillips, M.2
  • 30
    • 0026721678 scopus 로고
    • A two-motif isoform of the major calcium channel subunit in skeletal muscle
    • Malouf NN, McMahon DK, Hainsworth CN, Kay BK (1992) A two-motif isoform of the major calcium channel subunit in skeletal muscle. Neuron 8:899-906
    • (1992) Neuron , vol.8 , pp. 899-906
    • Malouf, N.N.1    McMahon, D.K.2    Hainsworth, C.N.3    Kay, B.K.4
  • 31
    • 0028289310 scopus 로고
    • Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of the skeletal muscle
    • Marty I, Robert M, Villaz M, DeJongh KS, Lai Y, Catteral WA, Ronjat M (1994) Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of the skeletal muscle. Proc Natl Acad Sci USA 91:2270-2274
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2270-2274
    • Marty, I.1    Robert, M.2    Villaz, M.3    DeJongh, K.S.4    Lai, Y.5    Catteral, W.A.6    Ronjat, M.7
  • 33
    • 0003436550 scopus 로고
    • Johns Hopkins University Press, Baltimore and London
    • McKusick VA (ed) (1990) Mendelian inheritance in man. Johns Hopkins University Press, Baltimore and London
    • (1990) Mendelian Inheritance in Man
    • McKusick, V.A.1
  • 34
    • 0029983398 scopus 로고    scopus 로고
    • Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
    • Nakai J, Dirksen RT, Nguyen HT, Pessah IN, Beam KG, Allen PD (1996) Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature 380: 72-74
    • (1996) Nature , vol.380 , pp. 72-74
    • Nakai, J.1    Dirksen, R.T.2    Nguyen, H.T.3    Pessah, I.N.4    Beam, K.G.5    Allen, P.D.6
  • 35
    • 0026541741 scopus 로고
    • Adult muscle sodium channel α-subunit is a candidate gene for malignant hyperthermia susceptibility
    • Olckers A, Meyers DA, Meyers S, Taylor EW, Fletcher JE, Rosenberg H, Isaacs H, et al (1992) Adult muscle sodium channel α-subunit is a candidate gene for malignant hyperthermia susceptibility. Genomics 14:829-831
    • (1992) Genomics , vol.14 , pp. 829-831
    • Olckers, A.1    Meyers, D.A.2    Meyers, S.3    Taylor, E.W.4    Fletcher, J.E.5    Rosenberg, H.6    Isaacs, H.7
  • 36
    • 0027286311 scopus 로고
    • 2+ channel (CACNLG), cDNA sequence, gene structure and chromosomal location
    • 2+ channel (CACNLG), cDNA sequence, gene structure and chromosomal location. J Biol Chem 268:9275-9279
    • (1993) J Biol Chem , vol.268 , pp. 9275-9279
    • Powers, P.1    Liu, S.2    Hogan, K.3    Gregg, R.4
  • 37
    • 0028140081 scopus 로고
    • Localization of the gene encoding the α2/δ subunit (CACNL2) of the human skeletal muscle voltage dependent calcium channel to chromosome 7q21-22 by somatic cell hybrid analysis
    • Powers P, Scherer SW, Tsui L, Gregg RG, Hogan K (1994) Localization of the gene encoding the α2/δ subunit (CACNL2) of the human skeletal muscle voltage dependent calcium channel to chromosome 7q21-22 by somatic cell hybrid analysis. Genomics 19:192-193
    • (1994) Genomics , vol.19 , pp. 192-193
    • Powers, P.1    Scherer, S.W.2    Tsui, L.3    Gregg, R.G.4    Hogan, K.5
  • 38
    • 0028179146 scopus 로고
    • Calcium channel β-subunit binds to a conserved motif in the I-II cytoplasmic linker of the α1-subunit
    • Pragnell M, de Waard M, Mori Y, Tanabe T, Snutch TP, Campbell KP (1994) Calcium channel β-subunit binds to a conserved motif in the I-II cytoplasmic linker of the α1-subunit. Nature 368:67-70
    • (1994) Nature , vol.368 , pp. 67-70
    • Pragnell, M.1    De Waard, M.2    Mori, Y.3    Tanabe, T.4    Snutch, T.P.5    Campbell, K.P.6
  • 42
    • 0027994061 scopus 로고
    • Mutation screening of the RYR1 gene in malignant hyperthermia: Detection of a novel tyr to ser mutation in a pedigree with associated central cores
    • Quane KA, Keating KE, Healy JMS, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, et al (1994a) Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel tyr to ser mutation in a pedigree with associated central cores. Genomics 23:236-239
    • (1994) Genomics , vol.23 , pp. 236-239
    • Quane, K.A.1    Keating, K.E.2    Healy, J.M.S.3    Manning, B.M.4    Krivosic-Horber, R.5    Krivosic, I.6    Monnier, N.7
  • 43
    • 0028207086 scopus 로고
    • Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implication for diagnosis and heterogeneity studies
    • Quane KA, Keating KE, Manning BM, Healy JMS, Monsieurs K, Heffron JJA, Lehane M, et al (1994b) Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implication for diagnosis and heterogeneity studies. Hum Mol Genet 3:471-476
    • (1994) Hum Mol Genet , vol.3 , pp. 471-476
    • Quane, K.A.1    Keating, K.E.2    Manning, B.M.3    Healy, J.M.S.4    Monsieurs, K.5    Heffron, J.J.A.6    Lehane, M.7
  • 44
    • 0027313278 scopus 로고
    • Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 Locus on chromosome 17q and of the α1-, β1, and γ-subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
    • Sudbrak R, Golla A, Hogan K, Powers PA, Gregg RG, Du Chesne I, Lehmann-Horn, et al (1993) Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 Locus on chromosome 17q and of the α1-, β1, and γ-subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet 2: 857-862
    • (1993) Hum Mol Genet , vol.2 , pp. 857-862
    • Sudbrak, R.1    Golla, A.2    Hogan, K.3    Powers, P.A.4    Gregg, R.G.5    Du Chesne, I.6    Lehmann-Horn7
  • 46
    • 0028845066 scopus 로고
    • Dystrophin-glycoprotein complex: Molecular organization and critical roles in skeletal muscle
    • Sunada Y, Campbell K (1995) Dystrophin-glycoprotein complex: molecular organization and critical roles in skeletal muscle. Curr Opin Neurol 8:379-384
    • (1995) Curr Opin Neurol , vol.8 , pp. 379-384
    • Sunada, Y.1    Campbell, K.2
  • 47
    • 0028065352 scopus 로고
    • Restoration of junctional tetrads in dysgenic myotubes by dihydropyridine receptor DNA
    • Takekura H, Bennett L, Tanabe T, Beam KG, Franzini-Armstrong C (1994) Restoration of junctional tetrads in dysgenic myotubes by dihydropyridine receptor DNA. Biophys J 67: 793-803
    • (1994) Biophys J , vol.67 , pp. 793-803
    • Takekura, H.1    Bennett, L.2    Tanabe, T.3    Beam, K.G.4    Franzini-Armstrong, C.5
  • 48
    • 0025288735 scopus 로고
    • Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling
    • Tanabe T, Beam KG, Adams BA, Niidome T, Numa S (1990) Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling. Nature 346:567-569
    • (1990) Nature , vol.346 , pp. 567-569
    • Tanabe, T.1    Beam, K.G.2    Adams, B.A.3    Niidome, T.4    Numa, S.5
  • 50
    • 0031022543 scopus 로고    scopus 로고
    • Crosstalk between G proteins and protein kinase C mediated by the calcium channel α1-subunit
    • Zamponi GW, Bourinet E, Nelson D, Nargeot J, Snutch TP (1997) Crosstalk between G proteins and protein kinase C mediated by the calcium channel α1-subunit. Nature 385: 442-446
    • (1997) Nature , vol.385 , pp. 442-446
    • Zamponi, G.W.1    Bourinet, E.2    Nelson, D.3    Nargeot, J.4    Snutch, T.P.5
  • 52
    • 0028950154 scopus 로고
    • Cloning and characterization of a calcium channel α1-subunit from Drosophila melanogaster with similarity to the rat brain type D isoform
    • Zheng W, Feng G, Ren D, Eberl DF, Hannan F, Dubald M, Hall LM (1995) Cloning and characterization of a calcium channel α1-subunit from Drosophila melanogaster with similarity to the rat brain type D isoform. J Neurosci 15: 1132-1143
    • (1995) J Neurosci , vol.15 , pp. 1132-1143
    • Zheng, W.1    Feng, G.2    Ren, D.3    Eberl, D.F.4    Hannan, F.5    Dubald, M.6    Hall, L.M.7


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