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.

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Abstract
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.
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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.
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