© 1993 Oxford University Press
RESEARCH-ARTICLE |
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
1Department of Microbiology and Immunology, University of Ottawa Ottawa, Canada 2Division of Genetics, Children's Hospital of Eastern Ontario Ottawa, Canada 3Department of Pediatrics, University of Ottawa Canada 4Human Genome Center, Biomedical Sciences Division, Lawrence Livermore National Laboratory Livermore, CA 94550, USA 5Department of Cell Biology and Histology, Faculty of Medical Sciences, University of Nijmegen PO Box 9101, 6500 HB, Nijmegen, The Netherlands
*To whom correspondence should be addressed at: Children's Hospital of Eastern Ontario, Molecular Genetics Laboratory, 401 Smyth Road, Ottawa, Ontario KIH 8L1, Canada
Received October 12, 1992; Revised January 15, 1993; Accepted January 15, 1993
The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kinase gene. A comparison of these sequences with each other and with known cDNA sequences from both species, led us to predict a translation initiation codon, as well as determine the organization of the DM kinase gene. Several polymorphisms within the human DM kinase gene have been identified, and PCR assays to detect two of these are described. The complete sequence and characterization of the structure of the DM kinase gene, as well as the identification of novel polymorphisms within the gene, represent an important step in a further understanding of the genetics of myotonic dystrophy and the molecular biology of the gene.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Seiler, N. Vogt, C. Ziv, R. Gorovits, and O. Yarden The STE20/Germinal Center Kinase POD6 Interacts with the NDR Kinase COT1 and Is Involved in Polar Tip Extension in Neurospora crassa Mol. Biol. Cell, September 1, 2006; 17(9): 4080 - 4092. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. E. M. A. van Herpen, R. J. A. Oude Ophuis, M. Wijers, M. B. Bennink, F. A. J. van de Loo, J. Fransen, B. Wieringa, and D. G. Wansink Divergent Mitochondrial and Endoplasmic Reticulum Association of DMPK Splice Isoforms Depends on Unique Sequence Arrangements in Tail Anchors Mol. Cell. Biol., February 15, 2005; 25(4): 1402 - 1414. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. G. Wansink, R. E. M. A. van Herpen, M. M. Coerwinkel-Driessen, P. J. T. A. Groenen, B. A. Hemmings, and B. Wieringa Alternative Splicing Controls Myotonic Dystrophy Protein Kinase Structure, Enzymatic Activity, and Subcellular Localization Mol. Cell. Biol., August 15, 2003; 23(16): 5489 - 5501. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Gorovits and O. Yarden Environmental Suppression of Neurospora crassa cot-1 Hyperbranching: a Link between COT1 Kinase and Stress Sensing Eukaryot. Cell, August 1, 2003; 2(4): 699 - 707. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Kamikubo, A. Takaori-Kondo, T. Uchiyama, and T. Hori Inhibition of Cell Growth by Conditional Expression of kpm, a Human Homologue of Drosophila warts/lats Tumor Suppressor J. Biol. Chem., May 9, 2003; 278(20): 17609 - 17614. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Furling, L. T. Lam, O. Agbulut, G. S. Butler-Browne, and G. E. Morris Changes in Myotonic Dystrophy Protein Kinase Levels and Muscle Development in Congenital Myotonic Dystrophy Am. J. Pathol., March 1, 2003; 162(3): 1001 - 1009. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Napierala, P. Parniewski, A. Pluciennik, and R. D. Wells Long CTG{middle dot}CAG Repeat Sequences Markedly Stimulate Intramolecular Recombination J. Biol. Chem., September 6, 2002; 277(37): 34087 - 34100. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L.T. Lam, Y.C.N. Pham, N. t. Man, and G.E. Morris Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart Hum. Mol. Genet., September 1, 2000; 9(14): 2167 - 2173. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Nokelainen, H. Heiskala, A.-E. Lehesjoki, and M. Kaski A Patient With 2 Different Repeat Expansion Mutations Arch Neurol, August 1, 2000; 57(8): 1199 - 1203. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. J.T.A. Groenen, D. G. Wansink, M. Coerwinkel, W. van den Broek, G. Jansen, and B. Wieringa Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties Hum. Mol. Genet., March 1, 2000; 9(4): 605 - 616. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Di Cunto, E. Calautti, J. Hsiao, L. Ong, G. Topley, E. Turco, and G. P. Dotto Citron Rho-interacting Kinase, a Novel Tissue-specific Ser/Thr Kinase Encompassing the Rho-Rac-binding Protein Citron J. Biol. Chem., November 6, 1998; 273(45): 29706 - 29711. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Storbeck, L. A. Sabourin, J. D. Waring, and R. G. Korneluk Definition of Regulatory Sequence Elements in the Promoter Region and the First Intron of the Myotonic Dystrophy Protein Kinase Gene J. Biol. Chem., April 10, 1998; 273(15): 9139 - 9147. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Napierala and W. J. Krzyzosiak CUG Repeats Present in Myotonin Kinase RNA Form Metastable "Slippery" Hairpins J. Biol. Chem., December 5, 1997; 272(49): 31079 - 31085. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Luo, T. Lee, L. Tsai, G. Tang, L. Y. Jan, and Y. N. Jan Genghis Khan (Gek) as a putative effector for Drosophila Cdc42 and regulator of actin polymerization PNAS, November 25, 1997; 94(24): 12963 - 12968. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. A. Sabourin, K. Tamai, M. A. Narang, and R. G. Korneluk Overexpression of 3'-Untranslated Region of the Myotonic Dystrophy Kinase cDNA Inhibits Myoblast Differentiation in Vitro J. Biol. Chem., November 21, 1997; 272(47): 29626 - 29635. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Zhao, P. Loyer, H. Li, V. Valentine, V. Kidd, and A. S. Kraft Cloning and Chromosomal Location of a Novel Member of the Myotonic Dystrophy Family of Protein Kinases J. Biol. Chem., April 11, 1997; 272(15): 10013 - 10020. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. R. DIETZ and K. D. MATHEWS Current Concepts Review - Update on the Genetic Bases of Disorders with Orthopaedic Manifestations J. Bone Joint Surg. Am., October 1, 1996; 78(10): 1583 - 98. [Full Text]
|
|
|
|
|
|
J. D. Waring, R. Haq, K. Tamai, L. A. Sabourin, J.-E Ikeda, and R. G. Korneluk Investigation of Myotonic Dystrophy Kinase Isoform Translocation and Membrane Association J. Biol. Chem., June 21, 1996; 271(25): 15187 - 15193. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Maeda, C. S. Taft, E. W. Bush, E. Holder, W. M. Bailey, H. Neville, M. B. Perryman, and R. D. Bies Identification, Tissue-specific Expression, and Subcellular Localization of the 80- and 71-kDa Forms of Myotonic Dystrophy Kinase Protein J. Biol. Chem., September 1, 1995; 270(35): 20246 - 20249. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R W Justice, O Zilian, D F Woods, M Noll, and P J Bryant The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes & Dev., March 1, 1995; 9(5): 534 - 546. [Abstract] [PDF]
|
|
|
|
 |
|
 T Xu, W Wang, S Zhang, R. Stewart, and W Yu Identifying tumor suppressors in genetic mosaics: the Drosophila lats gene encodes a putative protein kinase Development, January 4, 1995; 121(4): 1053 - 1063. [Abstract] [PDF]
|
|
|
|
|
|
A. Pizzuti, D. L. Friedman, and C. T. Caskey The Myotonic Dystrophy Gene Arch Neurol, November 1, 1993; 50(11): 1173 - 1179. [Abstract] [PDF]
|
|
|
|
|
|
J. P. Mounsey, J. E. John III, S. M. Helmke, E. W. Bush, J. Gilbert, A. D. Roses, M. B. Perryman, L. R. Jones, and J. R. Moorman Phospholemman Is a Substrate for Myotonic Dystrophy Protein Kinase J. Biol. Chem., July 21, 2000; 275(30): 23362 - 23367. [Abstract] [Full Text] [PDF]
|
|