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Science 1 May 1998:
Vol. 280. no. 5364, pp. 737 - 741
DOI: 10.1126/science.280.5364.737
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Reports

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

Anne V. Philips, Lubov T. Timchenko, Thomas A. Cooper *

Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene. One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the trans-dominant effect of the RNA. CUG-BP was found to bind to the human cardiac troponin T (cTNT) pre-messenger RNA and regulate its alternative splicing. Splicing of cTNT was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats. Altered expression of genes regulated posttranscriptionally by CUG-BP therefore may contribute to DM pathogenesis.

A. Philips and T. Cooper, Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA.
L. Timchenko, Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX 77030, USA.
*   To whom correspondence should be addressed. E-mail: tcooper{at}bcm.tmc.edu

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Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.
N. Sergeant, B. Sablonniere, S. Schraen-Maschke, A. Ghestem, C.-A. Maurage, A. Wattez, P. Vermersch, and A. Delacourte (2001)
Hum. Mol. Genet. 10, 2143-2155
   Abstract »    Full Text »    PDF »
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9.
C. L. Liquori, K. Ricker, M. L. Moseley, J. F. Jacobsen, W. Kress, S. L. Naylor, J. W. Day, and L. P. W. Ranum (2001)
Science 293, 864-867
   Abstract »    Full Text »    PDF »
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue.
A. L. Peel, R. V. Rao, B. A. Cottrell, M. R. Hayden, L. M. Ellerby, and D. E. Bredesen (2001)
Hum. Mol. Genet. 10, 1531-1538
   Abstract »    Full Text »    PDF »
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts.
M. Fardaei, K. Larkin, J. D. Brook, and M. G. Hamshere (2001)
Nucleic Acids Res. 29, 2766-2771
   Abstract »    Full Text »    PDF »
Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing.
M. Brudno, M. S. Gelfand, S. Spengler, M. Zorn, I. Dubchak, and J. G. Conboy (2001)
Nucleic Acids Res. 29, 2338-2348
   Abstract »    Full Text »    PDF »
Alternative Ribonucleic Acid Processing in Endocrine Systems.
H. Lou and R. F. Gagel (2001)
Endocr. Rev. 22, 205-225
   Abstract »    Full Text »
The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing.
A. N. Ladd, N. Charlet-B., and T. A. Cooper (2001)
Mol. Cell. Biol. 21, 1285-1296
   Abstract »    Full Text »


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