NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE

GRONEMEIER M, CONDIE A, PROSSER J, STEINMEYER K, JENTSCH TJ, Jockusch H (1994)
JOURNAL OF BIOLOGICAL CHEMISTRY 269(8): 5963-5967.

Download
Es wurde kein Volltext hochgeladen. Nur Publikationsnachweis!
Zeitschriftenaufsatz | Veröffentlicht | Englisch
Autor
; ; ; ; ;
Abstract / Bemerkung
In mature vertebrate muscle, the chloride channel Clc-1 is necessary for the stabilization of the resting potential. Its functional defect leads to the disease myotonia. The ADR mouse (phenotype ADR, genotype adr/adr) is an animal model for human myotonias. The adr gene is a member of a family of non-complementing recessive autosomal mutations (''alleles'' of adr) that cause myotonia in the mouse. The standard allele adr has arisen by the insertion of a retroposon into the chloride channel gene Clc-1 (Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., and Jentsch, T. J. (1991) Nature 354, 304-308). In order to study the nature of two other alleles, adr(mto) and adr(K), we have analyzed overlapping Clc-1 cDNA amplification products by the hydroxylamine and osmium tetroxide modification technique and direct sequencing. A comparison between ADR*MTO and C57BL/6 wild type showed six base pair substitutions, one of which resulted in a stop codon in position 47, whereas the five others are either silent or lead to amino acid substitutions in non-conserved regions of the Clc-1 sequence and were already present in the wild type inbred SWR/J strain from which adr(mto) was derived. The detection of the stop codon in the adr(mto) allele is further indication of the identity of the Clc-1 chloride channel with the adr myotonia gene in the mouse, because a chain termination close to the N terminus would necessarily destroy gene function. For the ethylnitrosourea-induced mutation adr(K), an Ile --> Thr exchange in codon 553 was identified. As this affects a conserved residue within a highly conserved region of the Clc-1 gene, a functional significance of this residue is suggested.
Erscheinungsjahr
Zeitschriftentitel
JOURNAL OF BIOLOGICAL CHEMISTRY
Band
269
Ausgabe
8
Seite(n)
5963-5967
ISSN
PUB-ID

Zitieren

GRONEMEIER M, CONDIE A, PROSSER J, STEINMEYER K, JENTSCH TJ, Jockusch H. NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE. JOURNAL OF BIOLOGICAL CHEMISTRY. 1994;269(8):5963-5967.
GRONEMEIER, M., CONDIE, A., PROSSER, J., STEINMEYER, K., JENTSCH, T. J., & Jockusch, H. (1994). NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE. JOURNAL OF BIOLOGICAL CHEMISTRY, 269(8), 5963-5967.
GRONEMEIER, M., CONDIE, A., PROSSER, J., STEINMEYER, K., JENTSCH, T. J., and Jockusch, H. (1994). NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE. JOURNAL OF BIOLOGICAL CHEMISTRY 269, 5963-5967.
GRONEMEIER, M., et al., 1994. NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE. JOURNAL OF BIOLOGICAL CHEMISTRY, 269(8), p 5963-5967.
M. GRONEMEIER, et al., “NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE”, JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 269, 1994, pp. 5963-5967.
GRONEMEIER, M., CONDIE, A., PROSSER, J., STEINMEYER, K., JENTSCH, T.J., Jockusch, H.: NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE. JOURNAL OF BIOLOGICAL CHEMISTRY. 269, 5963-5967 (1994).
GRONEMEIER, M, CONDIE, A, PROSSER, J, STEINMEYER, K, JENTSCH, TJ, and Jockusch, Harald. “NONSENSE AND MISSENSE MUTATIONS IN THE MUSCULAR CHLORIDE CHANNEL GENE CLC-1 OF MYOTONIC MICE”. JOURNAL OF BIOLOGICAL CHEMISTRY 269.8 (1994): 5963-5967.

34 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Abundance of ClC-1 chloride channel in human skeletal muscle: fiber type specific differences and effect of training.
Thomassen M, Hostrup M, Murphy RM, Cromer BA, Skovgaard C, Gunnarsson TP, Christensen PM, Bangsbo J., J Appl Physiol (1985) 125(2), 2018
PMID: 29722626
Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene.
Monteagudo LV, Tejedor MT, Ramos JJ, Lacasta D, Ferrer LM., Vet J 204(1), 2015
PMID: 25744800
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.
Borges AS, Barbosa JD, Resende LA, Mota LS, Amorim RM, Carvalho TL, Garcia JF, Oliveira-Filho JP, Oliveira CM, Souza JE, Winand NJ., Neuromuscul Disord 23(3), 2013
PMID: 23339992
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C., Neuromuscul Disord 22(4), 2012
PMID: 22197188
Identification of secondary effects of hyperexcitability by proteomic profiling of myotonic mouse muscle.
Staunton L, Jockusch H, Wiegand C, Albrecht T, Ohlendieck K., Mol Biosyst 7(8), 2011
PMID: 21629954
Fiber types in mammalian skeletal muscles.
Schiaffino S, Reggiani C., Physiol Rev 91(4), 2011
PMID: 22013216
The emerging chondrocyte channelome.
Barrett-Jolley R, Lewis R, Fallman R, Mobasheri A., Front Physiol 1(), 2010
PMID: 21423376
Specific isomyosin proportions in hyperexcitable and physiologically denervated mouse muscle.
Agbulut O, Noirez P, Butler-Browne G, Jockusch H., FEBS Lett 561(1-3), 2004
PMID: 15013776
New potent mexiletine and tocainide analogues evaluated in vivo and in vitro as antimyotonic agents on the myotonic ADR mouse.
De Luca A, Pierno S, Liantonio A, Desaphy JF, Natuzzi F, Didonna MP, Ferrannini E, Jockusch H, Franchini C, Lentini G, Corbo F, Tortorella V, Camerino DC., Neuromuscul Disord 14(7), 2004
PMID: 15210163
Molecular structure and physiological function of chloride channels.
Jentsch TJ, Stein V, Weinreich F, Zdebik AA., Physiol Rev 82(2), 2002
PMID: 11917096
Genetic disorders of neuromuscular ion channels.
Kleopa KA, Barchi RL., Muscle Nerve 26(3), 2002
PMID: 12210360
Anion transport in heart.
Hume JR, Duan D, Collier ML, Yamazaki J, Horowitz B., Physiol Rev 80(1), 2000
PMID: 10617765
Homologation of mexiletine alkyl chain and stereoselective blockade of skeletal muscle sodium channels.
Duranti A, Franchini C, Lentini G, Loiodice F, Tortorella V, De Luca A, Pierno S, Conte Camerino D., Eur J Med Chem 35(1), 2000
PMID: 10733611
A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL., FEBS Lett 456(1), 1999
PMID: 10452529
The place of migraine as a channelopathy.
Ptácek LJ., Curr Opin Neurol 11(3), 1998
PMID: 9642539
Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Krämer R, Lochmüller H, Abicht A, Rüdel R, Brinkmeier H., Neuromuscul Disord 8(8), 1998
PMID: 10093060
Ion channel mutations and diseases of skeletal muscle.
Barchi RL., Neurobiol Dis 4(3-4), 1997
PMID: 9361302
Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
Chen MF, Niggeweg R, Iaizzo PA, Lehmann-Horn F, Jockusch H., J Physiol 504 ( Pt 1)(), 1997
PMID: 9350619
Novel muscle chloride channel mutations and their effects on heterozygous carriers.
Mailänder V, Heine R, Deymeer F, Lehmann-Horn F., Am J Hum Genet 58(2), 1996
PMID: 8571958
Pathophysiology of ion channel mutations.
Keating MT, Sanguinetti MC., Curr Opin Genet Dev 6(3), 1996
PMID: 8791523
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Beck CL, Fahlke C, George AL., Proc Natl Acad Sci U S A 93(20), 1996
PMID: 8855341
Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation.
Bardouille C, Vullhorst D, Jockusch H., FEBS Lett 396(2-3), 1996
PMID: 8914983
Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
Rychkov GY, Pusch M, Astill DS, Roberts ML, Jentsch TJ, Bretag AH., J Physiol 497 ( Pt 2)(), 1996
PMID: 8961185
Properties of voltage-gated chloride channels of the ClC gene family.
Jentsch TJ, Günther W, Pusch M, Schwappach B., J Physiol 482(), 1995
PMID: 7730971
Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15.
Kohrman DC, Plummer NW, Schuster T, Jones JM, Jang W, Burgess DL, Galt J, Spear BT, Meisler MH., Genomics 26(2), 1995
PMID: 7601440
Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
Gurnett CA, Kahl SD, Anderson RD, Campbell KP., J Biol Chem 270(16), 1995
PMID: 7721815
Molecular genetics of ion channel diseases.
George AL., Kidney Int 48(4), 1995
PMID: 8569079
Cl- channels in basolateral renal medullary vesicles. X. Cloning of a Cl- channel from rabbit outer medulla.
Zimniak L, Winters CJ, Reeves WB, Andreoli TE., Kidney Int 48(6), 1995
PMID: 8587242
Molecular physiology of anion channels.
Jentsch TJ., Curr Opin Cell Biol 6(4), 1994
PMID: 7986538

Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®

Quellen

PMID: 8119941
PubMed | Europe PMC

Suchen in

Google Scholar