Inactivation of muscle chloride channel by transposon insertion in myotonic mice

Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Grunder S, Jentsch TJ (1991)
NATURE 354(6351): 304-308.

Download
No fulltext has been uploaded. References only!
Journal Article | Original Article | Published | English

No fulltext has been uploaded

Author
; ; ; ; ; ;
Abstract
MYOTONIA (stiffness and impaired relaxation of skeletal muscle) is a symptom of several diseases caused by repetitive firing of action potentials in muscle membranes 1. Purely myotonic human diseases are dominant myotonia congenita (Thomsen) and recessive generalized myotonia (Becker), whereas myotonic dystrophy is a systemic disease. Muscle hyperexcitability was attributed to defects in sodium channels 2,3 and/or to a decrease in chloride conductance (in Becker's myotonia 4 and in genetic animal models 5-10). Experimental blockage of Cl- conductance (normally 70-85% of resting conductance in muscle") in fact elicits myotonia 1,9. ADR (ref. 12) mice are a realistic animal model 5-7,12-18 for recessive autosomal myotonia. In addition to Cl- conductance 5, many other parameters 6,12,16 are changed in muscles of homozygous animals. We have now cloned the major mammalian skeletal muscle chloride channel (ClC-1) 19. Here we report that in ADR mice a transposon of the ETn family 20-23 has inserted into the corresponding gene, destroying its coding potential for several membrane-spanning domains. Together with the lack of recombination between the Clc-1 gene and the adr locus, this strongly suggests a lack of functional chloride channels as the primary cause of mouse myotonia.
Publishing Year
ISSN
PUB-ID

Cite this

Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE. 1991;354(6351):304-308.
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., & Jentsch, T. J. (1991). Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE, 354(6351), 304-308. doi:10.1038/354304a0
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., and Jentsch, T. J. (1991). Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE 354, 304-308.
Steinmeyer, K., et al., 1991. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE, 354(6351), p 304-308.
K. Steinmeyer, et al., “Inactivation of muscle chloride channel by transposon insertion in myotonic mice”, NATURE, vol. 354, 1991, pp. 304-308.
Steinmeyer, K., Klocke, R., Ortland, C., Gronemeier, M., Jockusch, H., Grunder, S., Jentsch, T.J.: Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE. 354, 304-308 (1991).
Steinmeyer, K, Klocke, R, Ortland, C, Gronemeier, M, Jockusch, Harald, Grunder, S, and Jentsch, TJ. “Inactivation of muscle chloride channel by transposon insertion in myotonic mice”. NATURE 354.6351 (1991): 304-308.
This data publication is cited in the following publications:
This publication cites the following data publications:

170 Citations in Europe PMC

Data provided by Europe PubMed Central.

Inhibiting persistent inward sodium currents prevents myotonia.
Hawash AA, Voss AA, Rich MM., Ann. Neurol. 82(3), 2017
PMID: 28833464
Helix O modulates voltage dependency of CLC-1.
Seong JY, Ha K, Hong C, Myeong J, Lim HH, Yang D, So I., Pflugers Arch. 469(2), 2017
PMID: 27921211
A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA., PLoS ONE 9(10), 2014
PMID: 25356766
An optical assay of the transport activity of ClC-7.
Zanardi I, Zifarelli G, Pusch M., Sci Rep 3(), 2013
PMID: 23390581
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
Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.
van Lunteren E, Moyer M, Cooperrider J, Pollarine J., Front Physiol 2(), 2011
PMID: 21886624
Transposons that clean up after themselves.
Chalker DL., Genome Biol. 10(6), 2009
PMID: 19589181
Synthetic, biologically active amphiphilic peptides.
Yamnitz CR, Gokel GW., Chem. Biodivers. 4(6), 2007
PMID: 17589872
Inhibitory effect of endothelin-1 on the isoproterenol-induced chloride current in human cardiac myocytes.
Tsai CS, Cheng TH, Lin CI, Chen JJ, Lee FY, Li CY, Hong HJ, Loh SH., Eur. J. Pharmacol. 424(2), 2001
PMID: 11476755
[Ion-channel related muscular diseases].
Fontaine B., Rev Med Interne 20(9), 1999
PMID: 10522299
Transcripts of the transposon mariner are present in epileptic brain.
Xie H, Brines ML, de Lanerolle NC., Epilepsy Res. 32(1-2), 1998
PMID: 9761316
Pharmacological interventions for the changes of chloride channel conductance of aging rat skeletal muscle.
De Luca A, Pierno S, Conte Camerino D., Ann. N. Y. Acad. Sci. 717(), 1994
PMID: 8030835
Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11.
Lengeling A, Zimmer WE, Goodman SR, Ma Y, Bloom ML, Bruneau G, Krieger M, Thibault J, Kaupmann K, Jockusch H., Mamm. Genome 5(3), 1994
PMID: 8199405
Regulation of resting ionic conductances in frog skeletal muscle.
Tricarico D, Wagner R, Bryant SH, Camerino DC., Pflugers Arch. 423(3-4), 1993
PMID: 8321621
Immunological identification of a Cl- channel protein in electric organs of Narke japonica.
Taguchi T, Kawasaki T, Kasai M., Biochem. Biophys. Res. Commun. 188(3), 1992
PMID: 1332714

Export

0 Marked Publications

Open Data PUB

Web of Science

View record in Web of Science®

Sources

PMID: 1659665
PubMed | Europe PMC

Search this title in

Google Scholar