Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene (original) (raw)
References
Vanier, T.M. Dystrophia Myotonia in Childhood. Br. Med. J.2, 1285–1288 (1960). Article Google Scholar
Harper, P.S. . in Myotonic Dystrophy 2nd edn (Saunders, Philadelphia, 1989). Google Scholar
Sarnat, H.B. & Silbert, S.W., Maturational Arrest of Fetal Muscle in Neonatal Myotonic Dystrophy. Arch. Neurol.33, 466–474 (1976). ArticleCASPubMed Google Scholar
Soussi-Yanicostas, N. et al. Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy. Neuromusc Dis1, 103–111 (1992). Article Google Scholar
Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature355, 548–551 (1992). ArticleCASPubMed Google Scholar
Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science255, 1253–1255 (1992). ArticleCASPubMed Google Scholar
Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTQ) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell68, 799–808 (1992). ArticleCASPubMed Google Scholar
Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature355, 547–548 (1992). ArticleCASPubMed Google Scholar
Fu, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science255, 1256–1258 (1992). ArticleCASPubMed Google Scholar
Jansen, G. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet.1, 261–266 (1992). ArticleCASPubMed Google Scholar
Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature355, 545–546 (1992). ArticleCASPubMed Google Scholar
Tsilfidis, C., MacKenzie, A.E., Mettler, G., Barcelo, J. & Korneluk, R.G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet.1, 192–195 (1992). ArticleCASPubMed Google Scholar
Barcelo, J.M., Mahadevan, M.S., Tsilfidis, C., MacKenzie, A.E. & Korneluk, R.G. Intergenerational stability of the myotonic dystrophy protomutation. Hum. molec. Genet. (in the press)
Caskey, C.T., Pizzuti, A., Fu, Y.-H., Fenwick, R.G. & Nelson, D.L. Triplet repeat mutations in human disease. Science256, 784–788 (1992). ArticleCASPubMed Google Scholar
Richards, R.I. & Sutherland, G.R. Dynamic mutations: A new class of mutations causing human disease. Cell70, 709–712 (1992). ArticleCASPubMed Google Scholar
Howeler, C.J., Busch, H.F.M., Geraedts, J.P.M., Niermeijer, M.F. & Staal, A. Anticipation in myotonic dystrophy: fact or fiction? Brain112, 779–797 (1989). ArticlePubMed Google Scholar
Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell67, 1047–1058 (1991). ArticleCASPubMed Google Scholar
Annemieke, J.M. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65, 905–914 (1991). Article Google Scholar
Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell66, 817–822 (1991). ArticleCASPubMed Google Scholar
Bell, M.V. et al. Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell64, 861–866 (1991). ArticleCASPubMed Google Scholar
Sutcliffe, J.S. et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. molec. Genet.1, 397–400 (1992). ArticleCASPubMed Google Scholar
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature352, 77–79 (1991). ArticleCASPubMed Google Scholar
The Huntington's disease collaborative research group. Cell72, 971–983 (1993). Article Google Scholar
McAllister, R.M., Melnyk, J., Finkelstein, J.Z., Adams, E.C. Jr., & Gardner, M.B. Cultivation in vitro of cells derived from a human rhabdomyosarcoma. Cancer24, 520–526 (1969). ArticleCASPubMed Google Scholar
Gililand, G., Perrin, S., Blanchard, K. & Bunn, H.F. Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction. Proc. natn. Acad. Sci. U.S.A.87, 2725–2729 (1990). Article Google Scholar
Fu, Y.-H. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science260, 235–238 (1993). ArticleCASPubMed Google Scholar
Zucker, M. & Stiegler, P. Optimal computer folding of large RNA sequences using thermodynamics and auxiliary information. Nucl. Acids Res.9, 133–148 (1981). Article Google Scholar
Mullner, E.W. & Kuhn, L.C. A stem-loop in the 3′ untranslated region mediates iron-dependent regulation of transferrin receptor mRNA stability in the cytoplasm. Cell53, 815–825 (1988). ArticleCASPubMed Google Scholar
Mullner, E.W., Neupert, B. & Kuhn, L.C. A specific mRNA binding factor regulates the iron- dependent stability of cytoplasmic transferrin receptor mRNA. Cell58, 373–382 (1989). ArticleCASPubMed Google Scholar
Peltz, S.W., Brewer, G., Bernstein, P., Hart, P.A. & Ross, J. Regulation of mRNA turnover in eukaryotic cells. Crit. Rev. Euk. Gene Exp.1, 99–126 (1991). CAS Google Scholar
Bernstein, P.L., Herrick, D.J., Prokipcak, R.D. & Ross, J. Control of c-myc mRNA half-life in vitro by a protein capable of binding to a coding stability determinant. Genes Dev.6, 642–654 (1992). ArticleCASPubMed Google Scholar
Dix, D.J., Lin, P.-N., Kimata, Y. & Theil, E.C. The iron regulatory region of ferritin mRNA is also a positive control elememt for iron-independent translation. Biochemistry31, 2818–2822 (1992). ArticleCASPubMed Google Scholar
Kaspar, R.L., Kakegawa, T., Cranston, H. & White, M.W. A regulatory cis element and a specific binding factor involved in the mitogenic control of murine ribosomal protein L32 translation. J. biol. Chem.267, 508–514 (1992). CASPubMed Google Scholar
Sengupta, D.N., Berkhout, B., Gatignol, A., Zhou, A. & Silverman, R.H. Direct evidence for translational regulation by leader RNA and Tat protein of human immunodeficiency virus type 1. Proc. natn. Acad. Sci. U.S.A.87, 7492–7496 (1990). ArticleCAS Google Scholar
McCormack, S.J., Thomis, D.C. & Samuel, C.E. Mechanism of interferon action: Identification of a RNA binding domain within the N-terminal region of the human RNA-dependent P1/elF-2 alpha protein kinase. Virology188, 47–56 (1992). ArticleCASPubMed Google Scholar
Wisdom, R. & Lee, W. Translation of c-myc mRNA is required for its post-transcriptional regulation during myogenesis. J. biol. Chem.265, 19015–19021 (1990). CASPubMed Google Scholar
Taylor, S.S., Buechler, J.A. & Yonemoto, W. cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes. An. Rev. Biochem.59, 971–1005 (1990). ArticleCAS Google Scholar
Farkas-Bargeton, E. et al. Immaturity of muscle fibers in the congenital form of myotonic dystrophy. J. neurol. Sci.83, 145–159 (1988). ArticleCASPubMed Google Scholar
Li, L., Heller-Harrison, R., Czech, M. & Olson, E. Cyclic AMP-dependent protein kinase inhibits the activity of myogenic helix-loop-helix proteins. Molec. cell. Biol.12, 4478–4485 (1992). ArticleCASPubMedPubMed Central Google Scholar
Li, L. et al. FGF inactivates myogenic helix-loop-helix proteins through phosphorylation of a conserved protein kinase C site in their DNA-binding domain. Cell71, 1181–1194 (1992). ArticleCASPubMed Google Scholar
Piechaczyk, M. et al. Post-transcriptional regulation of glyceraldehyde-3-phosphate-dehydrogenase gene expression in rat tissues. Nucl. Acids Res.12, 6951–6963 (1984). ArticleCASPubMedPubMed Central Google Scholar
Puissant, C. & Houdebine, L.-M. An improvement of the single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Biotechniques8, 148–149 (1990). CASPubMed Google Scholar
Birnboim, H.C. Rapid extraction of high molecular weight RNA from cultured cells and granulocytes for Northern analysis. Nucl. Acids Res.16, 1487–1497 (1988). ArticleCASPubMedPubMed Central Google Scholar
Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual 2nd edn (Cold Spring Harbor, New York 1989). Google Scholar
Sabourin, L.A. & Hawley, R.G. Suppression of programmed death and G1 arrest in B-cell hybridomas by interleukin-6 is not accompanied by altered expression of immediate early response genes. J. cell. Physiol.145, 564–574 (1990). ArticleCASPubMed Google Scholar
Dretzen, G., Bellard, M., Sassone-Corsi, P. & Chambon, P. A reliable method for the recovery of DNA fragments from agarose and acrylamide gels. Anal. Biochem.112, 295–298 (1981). ArticleCASPubMed Google Scholar
Feinberg, A.P. & Vogelstein, B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem.132, 6–13 (1983). ArticleCASPubMed Google Scholar
Mahadevan, M. et al. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum. molec. Genet. (in the press).