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Science 6 March 1992:
Vol. 255. no. 5049, pp. 1253 - 1255
DOI: 10.1126/science.1546325
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Articles

Science, Vol 255, Issue 5049, 1253-1255
Copyright © 1992 by American Association for the Advancement of Science

articles

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

M Mahadevan, C Tsilfidis, L Sabourin, G Shutler, C Amemiya, G Jansen, C Neville, M Narang, J Barcelo, K O'Hoy, and al. et

Department of Microbiology and Immunology, University of Ottawa, Ontario, Canada.

Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000 individuals. DM is an autosomal dominant, multisystemic disorder characterized primarily by myotonia and progressive muscle weakness. Genomic and complementary DNA probes that map to a 10-kilobase Eco RI genomic fragment from human chromosome 19q13.3 have been used to detect a variable length polymorphism in individuals with DM. Increases in the size of the allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3' untranslated region of a DM candidate gene. An increase in the severity of the disease in successive generations (genetic anticipation) is accompanied by an increase in the number of trinucleotide repeats. Nearly all cases of DM (98 percent or 253 of 258 individuals) displayed expansion of the CTG repeat region. These results suggest that DM is primarily caused by mutations that generate an amplification of a specific CTG repeat.


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Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
H. Seznec, A.-S. Lia-Baldini, C. Duros, C. Fouquet, C. Lacroix, H. Hofmann-Radvanyi, C. Junien, and G. Gourdon (2000)
Hum. Mol. Genet. 9, 1185-1194
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Functional analysis of the homeodomain protein SIX5.
S. E. Harris, C. L. Winchester, and K. J. Johnson (2000)
Nucleic Acids Res. 28, 1871-1878
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Fourteen and counting: unraveling trinucleotide repeat diseases.
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New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1).
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Neurology 54, 1218-1221
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Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.
P. J.T.A. Groenen, D. G. Wansink, M. Coerwinkel, W. van den Broek, G. Jansen, and B. Wieringa (2000)
Hum. Mol. Genet. 9, 605-616
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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.
M. T. Fortune, C. Vassilopoulos, M. I. Coolbaugh, M. J. Siciliano, and D. G. Monckton (2000)
Hum. Mol. Genet. 9, 439-445
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Trinucleotide Repeat Expansion and Neuropsychiatric Disease.
R. L. Margolis, M. G. McInnis, A. Rosenblatt, and C. A. Ross (1999)
Arch Gen Psychiatry 56, 1019-1031
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Insulin-Like Growth Factor I Circumvents Defective Insulin Action in Human Myotonic Dystrophy Skeletal Muscle Cells.
D. Furling, A. Marette, and J. Puymirat (1999)
Endocrinology 140, 4244-4250
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Expression of the Myotonic Dystrophy Locus-Associated Homeodomain Protein in Congenital Myotonic Dystrophy.
N. Tachi, K. Ohya, and S. Chiba (1999)
J Child Neurol 14, 471-473
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Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy.
T. Abe, M. Sato, J. Kuboki, T. Kano, and M. Tamai (1999)
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Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression.
R. L Margolis, O C. Stine, C. M Ward, M. L Franz, A. Rosenblatt, C. Callahan, M. Sherr, C. A Ross, and N. T Potter (1999)
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Definition of Regulatory Sequence Elements in the Promoter Region and the First Intron of the Myotonic Dystrophy Protein Kinase Gene.
C. J. Storbeck, L. A. Sabourin, J. D. Waring, and R. G. Korneluk (1998)
J. Biol. Chem. 273, 9139-9147
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Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.
F L Mastaglia, N Harker, B A Phillips, T J Day, G J Hankey, N G Laing, V Fabian, and B A Kakulas (1998)
J. Neurol. Neurosurg. Psychiatry 64, 543-547
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MKBP, a Novel Member of the Small Heat Shock Protein Family, Binds and Activates the Myotonic Dystrophy Protein Kinase.
A. Suzuki, Y. Sugiyama, Y. Hayashi, N. Nyu-i, M. Yoshida, I. Nonaka, S.-i. Ishiura, K. Arahata, and S. Ohno (1998)
J. Cell Biol. 140, 1113-1124
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CUG Repeats Present in Myotonin Kinase RNA Form Metastable "Slippery" Hairpins.
M. Napierala and W. J. Krzyzosiak (1997)
J. Biol. Chem. 272, 31079-31085
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Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice.
R. Roberts, N. A. Timchenko, J. W. Miller, S. Reddy, C. T. Caskey, M. S. Swanson, and L. T. Timchenko (1997)
PNAS 94, 13221-13226
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Overexpression of 3'-Untranslated Region of the Myotonic Dystrophy Kinase cDNA Inhibits Myoblast Differentiation in Vitro.
L. A. Sabourin, K. Tamai, M. A. Narang, and R. G. Korneluk (1997)
J. Biol. Chem. 272, 29626-29635
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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
B. M. Davis, M. E. McCurrach, K. L. Taneja, R. H. Singer, and D. E. Housman (1997)
PNAS 94, 7388-7393
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Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.
M. G. Hamshere, E. E. Newman, M. Alwazzan, B. S. Athwal, and J. D. Brook (1997)
PNAS 94, 7394-7399
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Cloning and Chromosomal Location of a Novel Member of the Myotonic Dystrophy Family of Protein Kinases.
Y. Zhao, P. Loyer, H. Li, V. Valentine, V. Kidd, and A. S. Kraft (1997)
J. Biol. Chem. 272, 10013-10020
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Triplet repeat polymorphism in the transmembrane region of the MICA gene: A strong association of six GCT repetitions with Behcet disease.
N. Mizuki, M. Ota, M. Kimura, S. Ohno, H. Ando, Y. Katsuyama, M. Yamazaki, K. Watanabe, K. Goto, S. Nakamura, et al. (1997)
PNAS 94, 1298-1303
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Caenorhabditis elegans LET-502 is related to Rho-binding kinases and human myotonic dystrophy kinase and interacts genetically with a homolog of the regulatory subunit of smooth muscle myosin phosphatase to affect cell shape..
A Wissmann, J Ingles, J D McGhee, and P E Mains (1997)
Genes & Dev. 11, 409-422
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Myotonic Disorders in Childhood: Diagnosis and Treatment.
R. T. Moxley (1997)
J Child Neurol 12, 116-129
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Ocular Changes in Patients With Spinocerebellar Degeneration and Repeated Trinucleotide Expansion of Spinocerebellar Ataxia Type 1 Gene.
T. Abe, K. Abe, M. Aoki, Y. Itoyama, and M. Tamai (1997)
Arch Ophthalmol 115, 231-236
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Cardiac disease in myotonic dystrophy.
M.F. Phillips and P.S. Harper (1997)
Cardiovasc Res 33, 13-22
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