Novel isoform of myotonin protein kinase: Gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle

American Journal of Pathology

Volumn 150, Issue 4, 1997, Pages 1285-1295

  Shimokawa, Masatake ^a,b   Ishiura, Shoichi ^b   Kameda, Noriyoshi ^a   Yamamoto, Masahiko ^a   Sasagawa, Noboru ^b   Saitoh, Naoto ^b   Sorimachi, Hiroyuki ^b   Ueda, Hideho ^c   Ohno, Shinichi ^c   Suzuki, Koichi ^b   Kobayashi, Takayoshi ^a,d  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c UNIVERSITY OF YAMANASHI   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETHANECHOL; PROTEIN KINASE;

ARTICLE; CALCIUM METABOLISM; ENZYME LOCALIZATION; HUMAN; HUMAN CELL; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; MYOTONIC DYSTROPHY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE;

ACTINS; ADULT; AMINO ACID SEQUENCE; BLOTTING, WESTERN; CELLS, CULTURED; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; ISOENZYMES; MICROSCOPY, IMMUNOELECTRON; MOLECULAR SEQUENCE DATA; MUSCLE DEVELOPMENT; MUSCLE, SKELETAL; MYOSINS; MYOTONIC DYSTROPHY; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; SARCOPLASMIC RETICULUM;

EID: 0030945034     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Harper PS: Myotonic Dystrophy, ed 2. Philadelphia, WB Saunders, 1989, p 352
2. Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, Alleman J, Wormskamp NGM, Vooijs M, Buxton J, Johnson K, Smeets HJM, Lennon G, Carrana AV, Korneluk RG, Wieringa B, de Jong PJ: Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992, 355:548-551
3. Buxon J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Williamson R, Johnson K: Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992, 355:547-548
4. Harley HG, Brook JD, Bundle SA, Crow S, Readon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ: Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992, 355:545-546
5. Hunter AGW, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh LC, Korneluk RG: The correlation of age at onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 1992, 29:774-779
6. Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K: Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet 1992, 1:467-473
7. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Lucke S, Johnson K, Junien C: Myotonic dystrophy size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993, 52:875-883
8. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Santon VP, Thirion J-P, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Sheibourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, House-man DE: 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 1992, 68:799-808 [erratum appears in Cell 1992, 69:385]
9. Fu Y-H, Pizzuti A, Fenwick RGF, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255: 1256-1258
10. Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, Jap PL, lles D, Coerwinkel M, Hofker M, Carrano AV, de Jong PJ, Korneiuk RQ, Wieringa B: Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs, Nature Genet 1992, 1:261-266
11. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G: Amemiya c, Jansen G, Neville C, Narang M, Barcelù J, O'Hoy K, Leblond S, Earle-Macdonald J, de Jong PJ, Wieringa B, Korneluk RG: Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992, 255:1253-1255
12. Timchenko L, Nastainczyk W, Scheneider T, Patel B, Hofmann F, Caskey CT: Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc Natl Acad Sci USA 1995, 92:5366-5370
13. Fu Y-H, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick Jr RG, Caskey CT: Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy, Science 1993, 260:235-238
14. Carango P, Noble JE, Marks HG, Funange VL: Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet expansion in myotonic dystrophy, Genomics 1993, 18:340-348
15. Hofmann-Radvanyi H, Lavedan C, Rabes J, Savoy D, Duros C, Johnson K, Junien C: Myotonic dystrophy: absence of CTG enlarge transcript in congenital forms and low expression of the normal allele, Hum Mol Genet 1993, 2:1263-1266
16. Hofmann-Ravanyi H, Junien C: Myotonic dystrophy: over-expression and/or under-expression? A critical review on a controversial point. Neuromuscul Disord 1993, 3:497-501
17. Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey CT, Dallapiccola B: Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle, Biochem Mol Biol Int 1993, 29:291-297
18. Sabourin LA, Mahadevan MS, Narange M, Lee DSC, Surth LC, Korneiuk RG: Effect of myotonic dystrophy (DM) mutation on mRNA levels of the DM gene, Nature Genet 1993, 4:233-238
19. Dunne PW, Walch ET, Epstein HF: Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition, Biochemistry 1994, 33:10809-10814
20. van der Ven PFM, Jansen G, van Kuppevelt THSM, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PHK, Veerkamp JH, Epstein HF, Wieringa B: Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum Mol Genet 1993, 2:1889-1894
21. Maeda M, Taft CS, Bush EW, Holder E, Bailey WM, Neville H, Perryman MB, Bies RD: Identification, tissue-specific expression, and sub-cellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein, J Biol Chem 1995, 270:20246-20249
22. Tachi N, Kozuka N, Ohya K, Chiba S, Kikuchi K: Expression of myotonic dystrophy protein kinase in biopsied muscles. J Neurol Sci 1995, 132:61-64
23. Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda J-E, Korneluk RG: Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. Hum Mol Genet 1995, 4:1063-1072
24. Salvatori S, Biral D, Furlan S, Marin O: Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles, Biochem Biophys Res Commun 1994, 203:1365-1370
25. Koga R, Nakao Y, Kurana Y, Tsukahara T, Nakamura A, Ishiura S, Nonaka I, Arahata K: Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. Biochem Biophys Res Commun 1994, 202:577-585
26. Brewster BS, Jeal S, Strong PN: Identification of a protein product of the myotonic dystrophy gene using peptide specific antibodies, Biochem Biophys Res Commun 1993, 194:1256-1260
27. Sasagawa N, Sorimachi H, Maruyama K, Arahata K, Ishiura S, Suzuki K: Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells. FEBS Lett 1994, 351:22-26
28. Laemmli UK: Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970, 227:680-685
29. Towbin H, Staehelin T, Gordon L: Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications, Proc Natl Acad Sci USA 1979, 76:4350-4354
30. Kameda N, Kobayashi T, Park-Matsumoto Y, Tsukagoshi H, Shimizu T: Developmental studies of the expression of myosin heavy chain isoforms in cultured human muscle aneurally and innervated with fetal rat spinal cord. J Neurol Sci 1993, 11:85-98
31. Askanas V, Engel WK: A new program for investigating adult human skeletal muscle grown aneurally in tissue culture. Neurology 1975, 25:58-67
32. Kobayashi T, Askanas V, Engel WK: Human muscle cultured in monolayer and cocultured with fetal rat spinal cord: importance of dorsal root ganglia for achieving successful functional innervation. J Neurosci 1987, 7:3131-3141
33. Kobayashi T, Ohno S, Park-Matsumoto YC, Kameda N, Baba T: Developmental studies of dystrophin and other cytoskeletal proteins in cultured muscle cells. Microsc Res Tech 1995, 30:437-457
34. Askanas V, Kwan H, Alvarez RB, Engel WK, Kobayashi T, Martinuzzi A, Hawkins EF: De novo neuromuscular junction formation on human muscle fibers cultured in monolayer and innervated by foetal rat spinal cord: ultrastructural and ultrastructural-cytochemical studies, J Neurocytol 1987, 16:423-537
35. Jacobs AEM, Benders RAGM. Oosterhof A, Veerkamp JH, Mier Pv, Wevers RA, Joosten EMG: The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy. Biochim Biophys Acta 1991, 1096:14-19