The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles

Mammalian Genome

Volumn 8, Issue 10, 1997, Pages 718-725

  Schnülle, Volker ^a   Antropova, Olga ^b   Gronemeier, Monika ^a   Wedemeyer, Niels ^a   Jockusch, Harald ^a   Bartsch, Jörg W ^a  

^a BIELEFELD UNIVERSITY   (Germany)

^b INSTITUTE OF CYTOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CLC 1 CHANNEL; CLC-1 CHANNEL; DNA; MUSCLE PROTEIN;

ALLELE; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHROMOSOME MAP; EXON; GENE; GENETIC POLYMORPHISM; GENETICS; HUMAN; INTRON; MOLECULAR GENETICS; MOUSE; MYOTONIA; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RAT; SEQUENCE HOMOLOGY; TRANSPOSON;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHLORIDE CHANNELS; CHROMOSOME MAPPING; DNA; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; EXONS; GENES; HUMANS; INTRONS; MICE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MYOTONIA; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RATS; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE HOMOLOGY;

ANIMALIA; MUS MUSCULUS; MUS SPRETUS; MUSCULUS;

EID: 0031259736     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900553     Document Type: Article

References (30)

1. Abdalla JA, Casley WL, Cousin HK, Hudson AJ, Murphy EG, Cornelis FC, Hashimoto L, Ebers GC (1992) Linkage of Thomsen disease to the T-cell receptor beta (TCRB) locus on chromosome 7q35. Am J Hum Genet 257, 579-584
2. Adachi MR, Watanabe-Fukunaga R, Nagata S (1993) Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of 1pr mice. Proc Natl Acad Sci USA 90, 1756-1760
3. Bardouille C, Vullhorst D, Jockusch H (1996) Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation. FEBS Lett 396, 177-180
4. Bassam BJ, Caetano-Anollés G, Gresshoff PM (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 96, 80-83
5. Brûlet P, Kaghad M, Xu Y-S, Croissant O, Jacob F (1983) Early differential tissue expression of transposon-like repetitive DNA sequences of the mouse. Proc Natl Acad Sci USA 80, 5641-5645
6. Chu S, Murray CB, Liu MM, Zeitlin P (1996) A short ClC-2 mRNA transcript is produced by exon skipping. Nucleic Acids Res 24, 3453-3457
7. Füchtbauer E-M, Reinighaus J, Jockusch H (1988) Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant. Proc Natl Acad Sci USA 85, 1383-1389
8. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC (1993) Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet 3, 305-310
9. Gronemeier M, Condie A, Prosser J, Steinmeyer K, Jentsch TJ, Jockusch H (1994) Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem 269, 5963-5596
10. Gurnett CA, Kahl SD, Anderson RD, Campbell KP (1995) Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. J Biol Chem 270, 9035-9038
11. Heller AH, Eicher EM, Hallett M, Sidman RL (1982) Myotonia, a new inherited muscle disease in mice. J Neurosci 2, 924-933
12. Jockusch H (1990a) Molecular aspects of myotonia: the ADR mouse as a model. J Neurol Sci 98 (Suppl), 9
13. Jockusch H (1990b) Allelic mutations at the myotonia locus adr. Mouse Genome 87, 72
14. Jockusch H, Bertram K (1986) Arrested development of righting response (adr) and "myotonia" (mto) are allelic. Mouse News Lett 75, 19
15. Klocke R, Steinmeyer K, Jentsch TJ, Jockusch H (1994) Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. J Biol Chem 269, 27635-27639
16. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik K-H, Jentsch TJ (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257, 797-800
17. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ (1994) Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 3, 941-946
18. Mehrke G, Brinkmeier H, Jockusch H (1988) The myotonic mouse mutant ADR: electrophysiology of the muscle fiber. Muscle Nerve 11, 440-446
19. Neumann P, Weber T (1989) A new allele of adr. Mouse News Lett 83, 157
20. Rüdel R, Lehmann-Horn F (1985) Membrane changes in cells from myotonia patients. Physiol Rev 65, 310-356
21. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15, 7155-7174
22. Shell B, Szurek P, Dunnick W (1987) Interruption of two immunoglobulin heavy-chain switch regions in murine plasmocytoma P3.26Bu4 by insertion of retrovirus-like element ETn. Mol Cell Biol 7, 1364-1370
23. Shell BE, Collins JT, Elenich LA, Szurek PF, Dunnick WA (1990) Two subfamilies of murine retrotransposon ETn sequences. Gene 86, 269-274
24. Skarnes WC, Auerbach B, Joyner AL (1992) A gene trap approach in mouse embryonic stem cells: the lacZ reported is activated by splicing, reflects endogenous gene expression, and is mutagenic in mice. Genes Dev 6, 903-918
25. Sonigo P, Wain-Hobson S, Bougeleret L, Toillas P, Jacob F, Brûlet P (1987) Nucleotide sequence and evolution of ETn elements. Proc Natl Acad Sci USA 84, 3768-3771
26. Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Gründer S, Jentsch TJ (1991a) Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 354, 304-308
27. Steinmeyer K, Ortland C, Jentsch TJ (1991b) Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 354, 301-304
28. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ (1994) Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J 13, 737-743
29. Watkins WJ, Watts DC (1984) Biological features of the new A2G-adr mouse mutant with abnormal muscle function. Lab Anim 18, 1-6
30. Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H (1993) Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals. Neuromusc Disord 3, 267-274