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Volumn 13, Issue 3, 1996, Pages 316-324

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MYOSIN HEAVY CHAIN; PROTEIN KINASE;

EID: 8944235350     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0796-316     Document Type: Article
Times cited : (289)

References (51)
  • 2
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J.D. et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1
  • 3
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu, Y-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.-H.1
  • 4
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan, M. et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253-1255 (1992).
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1
  • 5
    • 0026457624 scopus 로고
    • The correlation of age of onset wit CTG trinucleotide repeat amplification in myotonic dystrophy
    • Hunter, A.G.W. et al. The correlation of age of onset wit CTG trinucleotide repeat amplification in myotonic dystrophy. J. Med. Genet. 29, 774-779 (1992).
    • (1992) J. Med. Genet. , vol.29 , pp. 774-779
    • Hunter, A.G.W.1
  • 6
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley, H. et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum. Genet 52, 1164-1174 (1993).
    • (1993) Am. J. Hum. Genet , vol.52 , pp. 1164-1174
    • Harley, H.1
  • 7
    • 0027420436 scopus 로고
    • Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)
    • Brunner, H.G. et al. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am. J. Hum. Genet. 53, 1016-1023 (1993).
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 1016-1023
    • Brunner, H.G.1
  • 8
    • 0028883086 scopus 로고
    • Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeal
    • Jaspert, A., Fahsold, R., Grehl, H. & Claus, D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeal. J. Neurol. 242, 99-104 (1995).
    • (1995) J. Neurol. , vol.242 , pp. 99-104
    • Jaspert, A.1    Fahsold, R.2    Grehl, H.3    Claus, D.4
  • 9
    • 0026895235 scopus 로고
    • Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
    • Jansen, G. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet. 1, 261-266 (1992).
    • (1992) Nature Genet. , vol.1 , pp. 261-266
    • Jansen, G.1
  • 10
    • 0028104051 scopus 로고
    • Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
    • Dunne, P.W., Walch, E.T. & Epstein, H.F. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry 33, 10805-10814 (1994).
    • (1994) Biochemistry , vol.33 , pp. 10805-10814
    • Dunne, P.W.1    Walch, E.T.2    Epstein, H.F.3
  • 11
    • 0028120131 scopus 로고
    • Myotonic dystrophy reviewed: Back to the future?
    • Wieringa, B. Myotonic dystrophy reviewed: Back to the future? Hum. Molec. Genet. 3, 1-7 (1994).
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 1-7
    • Wieringa, B.1
  • 12
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
    • Jansen, G. et al. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet. 54, 575-585 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 575-585
    • Jansen, G.1
  • 13
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton, D.G., Wong, L-J.C., Ashizawa, T. & Caskey, C.K. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 4, 1-8 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.-J.C.2    Ashizawa, T.3    Caskey, C.K.4
  • 14
    • 0027246344 scopus 로고
    • Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
    • Fu, Y-H. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260, 235-238 (1993).
    • (1993) Science , vol.260 , pp. 235-238
    • Fu, Y.-H.1
  • 15
    • 0027291764 scopus 로고
    • Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
    • Hofmann-Radvanyi, H. et al. Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum. Mol. Genet. 2, 1263-1267 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1263-1267
    • Hofmann-Radvanyi, H.1
  • 16
    • 0027964557 scopus 로고
    • Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy
    • Koga, R. et al. Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. Biochem. Biophys. Res. Commun. 202, 577-585 (1994).
    • (1994) Biochem. Biophys. Res. Commun. , vol.202 , pp. 577-585
    • Koga, R.1
  • 17
    • 0027163546 scopus 로고
    • Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
    • Sabourin, L.A. et al. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet. 4, 233-238 (1993).
    • (1993) Nature Genet. , vol.4 , pp. 233-238
    • Sabourin, L.A.1
  • 18
    • 0029161979 scopus 로고
    • Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
    • Krahe, R. et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28, 1-14 (1995).
    • (1995) Genomics , vol.28 , pp. 1-14
    • Krahe, R.1
  • 19
    • 0029038947 scopus 로고
    • Structural organization and developmental expression pattern of the DMR-N9 gene immediately upstream of the myotonic dystrophy locus
    • Jansen, G., Bächner, D., Coerwinkel, M., Wormskamp, N., Hameister, H. & Wieringa, B. Structural organization and developmental expression pattern of the DMR-N9 gene immediately upstream of the myotonic dystrophy locus. Hum. Mol. Genet. 4, 843-852 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 843-852
    • Jansen, G.1    Bächner, D.2    Coerwinkel, M.3    Wormskamp, N.4    Hameister, H.5    Wieringa, B.6
  • 20
    • 0027729047 scopus 로고
    • Genomic organization and transcriptional units at the myotonic dystrophy locus
    • Shaw, D.J. et al. Genomic organization and transcriptional units at the myotonic dystrophy locus. Genomics 18, 673-679 (1993).
    • (1993) Genomics , vol.18 , pp. 673-679
    • Shaw, D.J.1
  • 21
    • 0028818586 scopus 로고
    • A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
    • Boucher, C.A et al. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum. Mol. Genet. 4, 1919-1925 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1919-1925
    • Boucher, C.A.1
  • 22
    • 0027525217 scopus 로고
    • Myotonic dystrophy kinase is a component of neuromuscular junctions
    • Van der Ven, P.F.M. et al. Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum. Mol. Genet. 2, 1889-1894 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1889-1894
    • Van Der Ven, P.F.M.1
  • 23
    • 0029057786 scopus 로고
    • Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
    • Whiting, E.J. et al. Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. Hum. Mol. Genet. 4, 1063-1072 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1063-1072
    • Whiting, E.J.1
  • 24
    • 0029163447 scopus 로고
    • Identification, tissue-specific expression and subcellular localization of the 80- and 71 kDa forms of myotonic dystrophy kinase protein
    • Maeda, M. et al. Identification, tissue-specific expression and subcellular localization of the 80- and 71 kDa forms of myotonic dystrophy kinase protein. J. Biol. Chem. 270, 20246-20249 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 20246-20249
    • Maeda, M.1
  • 25
    • 0027161077 scopus 로고
    • Identification of a protein product of the myotonic dystrophy gene using peptide specific antibodies
    • Brewster, B.S., Jeal, S. & Strong, P.N. Identification of a protein product of the myotonic dystrophy gene using peptide specific antibodies. Biochem. Biophys. Res. Commun. 194, 1255-1260 (1993).
    • (1993) Biochem. Biophys. Res. Commun. , vol.194 , pp. 1255-1260
    • Brewster, B.S.1    Jeal, S.2    Strong, P.N.3
  • 26
    • 0027478771 scopus 로고
    • The histochemical profiles of fast fibre types IIB, IID and IIA in skeletal muscles of mouse, rat and rabbit
    • Hämäläinen, N. & Perte, D. The histochemical profiles of fast fibre types IIB, IID and IIA in skeletal muscles of mouse, rat and rabbit. J. Histochem. Cytochem. 41, 733-743 (1993).
    • (1993) J. Histochem. Cytochem. , vol.41 , pp. 733-743
    • Hämäläinen, N.1    Perte, D.2
  • 28
    • 0026591170 scopus 로고
    • Retinal degeneration is rescued in transgenic rd mice by exrpressin of the cGMP phosphodiesterase beta subunit. Proc. Natl
    • Lem, J. et al. Retinal degeneration is rescued in transgenic rd mice by exrpressin of the cGMP phosphodiesterase beta subunit. Proc. Natl. Acad. Sci. USA. 89, 4422-4426 (1992).
    • (1992) Acad. Sci. USA. , vol.89 , pp. 4422-4426
    • Lem, J.1
  • 29
    • 0026035885 scopus 로고
    • Detection of Coxsackievirus B3 RNA in myocardial tissues by the polymerase chain reaction
    • Weiss, L.M., Movahed, L.A., Billingham, M.E. & Cleary M.L. Detection of Coxsackievirus B3 RNA in myocardial tissues by the polymerase chain reaction. Am. J. Pathol. 138, 497-503 (1991).
    • (1991) Am. J. Pathol. , vol.138 , pp. 497-503
    • Weiss, L.M.1    Movahed, L.A.2    Billingham, M.E.3    Cleary, M.L.4
  • 30
    • 0022354087 scopus 로고
    • Cardiac Involvement in myotonic dystrophy
    • Moorman, J.R. et al. Cardiac Involvement in myotonic dystrophy. Medicine 64, 371-378 (1985).
    • (1985) Medicine , vol.64 , pp. 371-378
    • Moorman, J.R.1
  • 31
    • 0023853927 scopus 로고
    • Pathology of the cardiac conduction system in myotonic dystrophy: A study of 12 cases
    • Nguyen, H.H., Wolfe III, J.T., Holmes, D.R. & Edwards, W.D. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases. J. Am. Coll. Cardiol. 11, 662-671 (1988).
    • (1988) J. Am. Coll. Cardiol. , vol.11 , pp. 662-671
    • Nguyen, H.H.1    Wolfe III, J.T.2    Holmes, D.R.3    Edwards, W.D.4
  • 32
    • 0023914599 scopus 로고
    • The natural history of cardiac involvement in myotonic dystrophy: An eight-year follow-up in 17 patients
    • Melacini, P. et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients. Clin. Cardiol. 11, 231-238 (1988).
    • (1988) Clin. Cardiol. , vol.11 , pp. 231-238
    • Melacini, P.1
  • 34
    • 0027288790 scopus 로고
    • Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
    • Mahadevan, M.S. et al. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum. Molec. Genet 2, 299-304 (1993).
    • (1993) Hum. Molec. Genet , vol.2 , pp. 299-304
    • Mahadevan, M.S.1
  • 35
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. & Singer, R.H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 128, 995-1002 (1995).
    • (1995) J. Cell Biol. , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 36
    • 0027941198 scopus 로고
    • Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
    • Wang, Y-H., Amirhaeri, S., Kang, S., Wells, R.D. & Griffith, J.D. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265, 669-671 (1994).
    • (1994) Science , vol.265 , pp. 669-671
    • Wang, Y.-H.1    Amirhaeri, S.2    Kang, S.3    Wells, R.D.4    Griffith, J.D.5
  • 38
    • 0024677890 scopus 로고
    • Three myosin heavy chain isoforms in type 2 skeletal muscle fibres
    • Schiaffino, S. et al. Three myosin heavy chain isoforms in type 2 skeletal muscle fibres. J. Muscle Res. Cell. Motil. 10, 197 (1989).
    • (1989) J. Muscle Res. Cell. Motil. , vol.10 , pp. 197
    • Schiaffino, S.1
  • 39
    • 0026658158 scopus 로고
    • Quantitation of muscle precursor cell activity in skeletal muscle by northern analysis of MyoD and myogenin expression: Application to dystrophic (mdx) mouse muscle
    • Beilharz, M.W., Lareu, R.R., Garrett, K.L., Grounds, M.D. & Fletcher, S. Quantitation of muscle precursor cell activity in skeletal muscle by northern analysis of MyoD and myogenin expression: application to dystrophic (mdx) mouse muscle. Mol. Cell. Neurosci. 3, 326-331 (1992).
    • (1992) Mol. Cell. Neurosci. , vol.3 , pp. 326-331
    • Beilharz, M.W.1    Lareu, R.R.2    Garrett, K.L.3    Grounds, M.D.4    Fletcher, S.5
  • 40
    • 0021713536 scopus 로고
    • Muscle development in mdx mutant mice
    • Dangain, J. & Vrbova, G. Muscle development in mdx mutant mice. Muscle Nerve 7, 700-704 (1984).
    • (1984) Muscle Nerve , vol.7 , pp. 700-704
    • Dangain, J.1    Vrbova, G.2
  • 41
    • 0027185215 scopus 로고
    • Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity
    • Van Deursen, J. et al. Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity. Cell 74, 621-631 (1993).
    • (1993) Cell , vol.74 , pp. 621-631
    • Van Deursen, J.1
  • 42
    • 0026737822 scopus 로고
    • Targeting of the creatine kinase M gene in embryonic stem cells using isogenic and nonisogenic vectors
    • Van Deursen, J. & Wieringa, B. Targeting of the creatine kinase M gene in embryonic stem cells using isogenic and nonisogenic vectors. Nucl. Acids Res. 20, 3815-3820 (1992).
    • (1992) Nucl. Acids Res. , vol.20 , pp. 3815-3820
    • Van Deursen, J.1    Wieringa, B.2
  • 44
    • 0025739379 scopus 로고
    • Simplified mammalian DNA isolation procedure
    • Laird, P.W. et al. Simplified mammalian DNA isolation procedure. Nucl. Acid. Res. 19, 4293 (1991)
    • (1991) Nucl. Acid. Res. , vol.19 , pp. 4293
    • Laird, P.W.1
  • 45
    • 0026567370 scopus 로고
    • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    • Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355, 548-551 (1992).
    • (1992) Nature , vol.355 , pp. 548-551
    • Aslanidis, C.1
  • 46
    • 0024319520 scopus 로고
    • A non-radioactive in sity hybridization method for the localization of specific RNAs in Drosophila embryos reveals transtational control of the segmentation gene hunchback
    • Tautz, D. & Pfeiffle, C. A non-radioactive in sity hybridization method for the localization of specific RNAs in Drosophila embryos reveals transtational control of the segmentation gene hunchback. Chromosoma 2, 81-85 (1989).
    • (1989) Chromosoma , vol.2 , pp. 81-85
    • Tautz, D.1    Pfeiffle, C.2
  • 47
    • 0027310879 scopus 로고
    • Whole-mount in situ hybridization in the mouse embryo: Gene expression in three dimensions
    • Rosen, B. & Beddington, R.S. Whole-mount in situ hybridization in the mouse embryo: gene expression in three dimensions. Trends Genet. 5, 162-167 (1993).
    • (1993) Trends Genet. , vol.5 , pp. 162-167
    • Rosen, B.1    Beddington, R.S.2
  • 48
    • 0027715424 scopus 로고
    • Enhanced expression of the FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
    • Bächner, D. et al. Enhanced expression of the FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet. 2, 2043-2050 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2043-2050
    • Bächner, D.1
  • 49
    • 0020599843 scopus 로고
    • Morphine tissue levels and reduction of gastrointestinal transit in rats. Correlation supports primary action site in the gut
    • Bianchi, G., Ferretti, P., Recchia, M., Rocchetti, M., Tavani, A. & Manara, L. Morphine tissue levels and reduction of gastrointestinal transit in rats. Correlation supports primary action site in the gut. Gastroenterology 85, 852-858 (1983).
    • (1983) Gastroenterology , vol.85 , pp. 852-858
    • Bianchi, G.1    Ferretti, P.2    Recchia, M.3    Rocchetti, M.4    Tavani, A.5    Manara, L.6
  • 50
    • 0028227242 scopus 로고
    • The upregulation of acetylcholine release at endplates of bungarotoxin-treated rats: Its dependency on calcium
    • Plomp, J.J., van Kempen, G.Th.H. & Molenaar, P.C. The upregulation of acetylcholine release at endplates of bungarotoxin-treated rats: Its dependency on calcium. J. Physiol. 478, 125-136 (1994).
    • (1994) J. Physiol. , vol.478 , pp. 125-136
    • Plomp, J.J.1    Van Kempen, G.Th.H.2    Molenaar, P.C.3
  • 51
    • 8944260515 scopus 로고
    • PhD. Thesis University of Nijmegen, Medical Faculty, The Netherlands
    • Van der Ven, P.F.M. PhD. Thesis (University of Nijmegen, Medical Faculty, The Netherlands, 1995).
    • (1995)
    • Van Der Ven, P.F.M.1


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