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.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Steinmeyer, K; Klocke, R; Ortland, C; Gronemeier, M; Jockusch, HaraldUniBi; Grunder, S; Jentsch, TJ
Abstract / Bemerkung
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.
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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.
Steinmeyer, K, Klocke, R, Ortland, C, Gronemeier, M, Jockusch, Harald, Grunder, S, and Jentsch, TJ. 1991. “Inactivation of muscle chloride channel by transposon insertion in myotonic mice”. NATURE 354 (6351): 304-308.
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.

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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
Aging and chloride channel regulation in rat fast-twitch muscle fibres.
De Luca A, Tricarico D, Pierno S, Conte Camerino D., Pflugers Arch 427(1-2), 1994
PMID: 8058478
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
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
Kingsmore SF, Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF., Nat Genet 7(2), 1994
PMID: 7920630
Molecular physiology of anion channels.
Jentsch TJ., Curr Opin Cell Biol 6(4), 1994
PMID: 7986538
Cardiac chloride channels.
Ackerman MJ, Clapham DE., Trends Cardiovasc Med 3(1), 1993
PMID: 21244967
Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene.
Feuchter-Murthy AE, Freeman JD, Mager DL., Nucleic Acids Res 21(1), 1993
PMID: 8382789
Genetics and physiology of the myotonic muscle disorders.
Ptacek LJ, Johnson KJ, Griggs RC., N Engl J Med 328(7), 1993
PMID: 7678441
Genetic analysis of diabetes and insulitis in an interspecific cross of the nonobese diabetic mouse with Mus spretus.
de Gouyon B, Melanitou E, Richard MF, Requarth M, Hahn IH, Guenet JL, Demenais F, Julier C, Lathrop GM, Boitard C., Proc Natl Acad Sci U S A 90(5), 1993
PMID: 8446602
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
George AL, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC., Nat Genet 3(4), 1993
PMID: 7981750
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
Chloride channels.
Jentsch TJ., Curr Opin Neurobiol 3(3), 1993
PMID: 8396475
Transposable elements as introns: evolutionary connections.
Purugganan MD., Trends Ecol Evol 8(7), 1993
PMID: 21236158
Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.
Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H., Neuromuscul Disord 3(4), 1993
PMID: 8268723
Retroviruses, apoptosis and autogenes.
Mountz JD, Talal N., Immunol Today 14(11), 1993
PMID: 8274195
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Koch MC, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, Steinmeyer K, Jentsch TJ., J Med Genet 30(11), 1993
PMID: 8301644
Chromosomal mapping in the mouse of eight K(+)-channel genes representing the four Shaker-like subfamilies Shaker, Shab, Shaw, and Shal.
Klocke R, Roberds SL, Tamkun MM, Gronemeier M, Augustin A, Albrecht B, Pongs O, Jockusch H., Genomics 18(3), 1993
PMID: 7905852
The ClC family of voltage-gated chloride channels: structure and function.
Jentsch TJ, Pusch M, Rehfeldt A, Steinmeyer K., Ann N Y Acad Sci 707(), 1993
PMID: 9137559
The structure of the mouse parvalbumin gene.
Schleef M, Zühlke C, Jockusch H, Schöffl F., Mamm Genome 3(4), 1992
PMID: 1611216
New nucleotide sequence data on the EMBL File Server.
, Nucleic Acids Res 20(3), 1992
PMID: 1741309
Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
Abdalla JA, Casley WL, Cousin HK, Hudson AJ, Murphy EG, Cornélis FC, Hashimoto L, Ebers GC., Am J Hum Genet 51(3), 1992
PMID: 1386711
Identification and modulation of a voltage-dependent anion channel in the plasma membrane of guard cells by high-affinity ligands.
Marten I, Zeilinger C, Redhead C, Landry DW, al-Awqati Q, Hedrich R., EMBO J 11(10), 1992
PMID: 1382976
The periodic paralyses.
Griggs RC, Ptácek LJ., Hosp Pract (Off Ed) 27(11), 1992
PMID: 1331137
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

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