Mirkin, S.M. Expandable DNA repeats and human disease. Nature 447, 932–940 (2007).
Caskey, C.T., Pizzuti, A., Fu, Y.H., Fenwick, R.G. Jr. & Nelson, D.L. Triplet repeat mutations in human disease. Science 256, 784–789 (1992).
Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547–548 (1992).
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).
Mankodi, A., Lin, X., Blaxall, B.C., Swanson, M.S. & Thornton, C.A. Nuclear RNA foci in the heart in myotonic dystrophy. Circ. Res. 97, 1152–1155 (2005).
Orengo, J.P. et al. Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc. Natl. Acad. Sci. USA 105, 2646–2651 (2008).
Mankodi, A. et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289, 1769–1773 (2000).
Ebralidze, A., Wang, Y., Petkova, V., Ebralidse, K. & Junghans, R.P. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303, 383–387 (2004).
Krol, J. et al. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol. Cell 25, 575–586 (2007).
Kuyumcu-Martinez, N.M., Wang, G.S. & Cooper, T.A. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol. Cell 28, 68–78 (2007).
Lin, X. et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet. 15, 2087–2097 (2006).
Lueck, J.D., Mankodi, A., Swanson, M.S., Thornton, C.A. & Dirksen, R.T. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J. Gen. Physiol. 129, 79–94 (2007).
Charlet, B.N. et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 10, 45–53 (2002).
Lueck, J.D. et al. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am. J. Physiol. Cell Physiol. 292, C1291–C1297 (2007).
Wheeler, T.M., Lueck, J.D., Swanson, M.S., Dirksen, R.T. & Thornton, C.A. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J. Clin. Invest. 117, 3952–3957 (2007).
Savkur, R.S., Philips, A.V. & Cooper, T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29, 40–47 (2001).
Miller, J.W. et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19, 4439–4448 (2000).
Warf, M.B. & Berglund, J.A. MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA 13, 2238–2251 (2007).
Begemann, G. et al. muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins. Development 124, 4321–4331 (1997).
Teplova, M. & Patel, D.J. Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1. Nat. Struct. Mol. Biol. 15, 1343–1351 (2008).
Ho, T.H. et al. Muscleblind proteins regulate alternative splicing. EMBO J. 23, 3103–3112 (2004).
Mooers, B.H., Logue, J.S. & Berglund, J.A. The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc. Natl. Acad. Sci. USA 102, 16626–16631 (2005).
Paul, S. et al. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J. 25, 4271–4283 (2006).
Timchenko, N.A. et al. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J. Biol. Chem. 276, 7820–7826 (2001).
Kalsotra, A. et al. A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc. Natl. Acad. Sci. USA 105, 20333–20338 (2008).
Kim, D.H. et al. HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res. 33, 3866–3874 (2005).
Kanadia, R.N. et al. A muscleblind knockout model for myotonic dystrophy. Science 302, 1978–1980 (2003).
Kanadia, R.N. et al. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl. Acad. Sci. USA 103, 11748–11753 (2006).
Sugnet, C.W. et al. Unusual intron conservation near tissue-regulated exons found by splicing microarrays. PLOS Comput. Biol. 2, e4 (2006).
Ni, J.Z. et al. Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay. Genes Dev. 21, 708–718 (2007).
Fardaei, M. et al. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Mol. Genet. 11, 805–814 (2002).
Holt, I. et al. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Am. J. Pathol. 174, 216–227 (2009).
Hino, S. et al. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Hum. Mol. Genet. 16, 2834–2843 (2007).
Yuan, Y. et al. Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res. 35, 5474–5486 (2007).
Hsu, F. et al. The UCSC known genes. Bioinformatics 22, 1036–1046 (2006).
Lejeune, F. & Maquat, L.E. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr. Opin. Cell Biol. 17, 309–315 (2005).
Wheeler, T.M. et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 325, 336–339 (2009).
Zeeberg, B.R. et al. High-Throughput GoMiner, an ′industrial-strength′ integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID). BMC Bioinformatics 6, 168 (2005).
He, F. et al. Solution structure of the RNA binding domain in the human muscleblind-like protein 2. Protein Sci. 18, 80–91 (2009).
Adereth, Y., Dammai, V., Kose, N., Li, R. & Hsu, T. RNA-dependent integrin α3 protein localization regulated by the Muscleblind-like protein MLP1. Nat. Cell Biol. 7, 1240–1247 (2005).
Jiang, H., Mankodi, A., Swanson, M.S., Moxley, R.T. & Thornton, C.A. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum. Mol. Genet. 13, 3079–3088 (2004).
Hao, M. et al. Muscleblind-like 2 (Mbnl2)-deficient mice as a model for myotonic dystrophy. Dev. Dyn. 237, 403–410 (2008).
Mankodi, A. et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35–44 (2002).
Xu, X. et al. ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle. Cell 120, 59–72 (2005).
Lee, S.J. et al. Regulation of muscle growth by multiple ligands signaling through activin type II receptors. Proc. Natl. Acad. Sci. USA 102, 18117–18122 (2005).
Kanagawa, M. & Toda, T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J. Hum. Genet. 51, 915–926 (2006).
Jimenez-Mallebrera, C., Brown, S.C., Sewry, C.A. & Muntoni, F. Congenital muscular dystrophy: molecular and cellular aspects. Cell. Mol. Life Sci. 62, 809–823 (2005).
Schessl, J., Zou, Y. & Bonnemann, C.G. Congenital muscular dystrophies and the extracellular matrix. Semin. Pediatr. Neurol. 13, 80–89 (2006).
Engelbert, R.H. et al. Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up. Arch. Phys. Med. Rehabil. 85, 772–778 (2004).
Ishikawa, H. et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 62, 620–623 (2004).
Eklund, L. et al. Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. Proc. Natl. Acad. Sci. USA 98, 1194–1199 (2001).
Behan, W.M. et al. Muscle fibrillin deficiency in Marfan′s syndrome myopathy. J. Neurol. Neurosurg. Psychiatry 74, 633–638 (2003).
Percheron, G. et al. Muscle strength and body composition in adult women with Marfan syndrome. Rheumatology (Oxford) 46, 957–962 (2007).
Stone, E.M. et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N. Engl. J. Med. 351, 346–353 (2004).
Lotery, A.J. et al. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum. Mutat. 27, 568–574 (2006).
Morellini, F. & Schachner, M. Enhanced novelty-induced activity, reduced anxiety, delayed resynchronization to daylight reversal and weaker muscle strength in tenascin-C-deficient mice. Eur. J. Neurosci. 23, 1255–1268 (2006).
Tusher, V.G., Tibshirani, R. & Chu, G. Significance analysis of microarrays applied to the ionizing radiation response. Proc. Natl. Acad. Sci. USA 98, 5116–5121 (2001).
Livak, K.J. & Schmittgen, T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25, 402–408 (2001).
Dominski, Z. & Kole, R. Selection of splice sites in pre-mRNAs with short internal exons. Mol. Cell. Biol. 11, 6075–6083 (1991).
Hanahan, D., Lane, D., Lipsich, L., Wigler, M. & Botchan, M. Characteristics of an SV40-plasmid recombinant and its movement into and out of the genome of a murine cell. Cell 21, 127–139 (1980).