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Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs

Nature Genetics volume 1, pages 261–266 (1992)Cite this article

Abstract

The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG–repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM–kinase (DMR–B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5–30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMR–N9) in close proximity to the kinase gene. DMR–N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG–repeat compromising the (alternative) expression of DM–kinase or DMR–N9 proteins.

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Authors and Affiliations

  1. Department of Cell Biology and Histology, Faculty of Medical Sciences, University of Nijmegen, P.O.Box 9101, 6500 HB, Nijmegen, The Netherlands

    G. Jansen, N. Wormskamp, B. Segers, W. Hendriks, P.L. Jap, D. Iles, M. Coerwinkel & B. Wieringa

  2. Division of Genetics, Childrens Hospital of Eastern Ontario and Department of Microbiology and Immunology, University of Ottawa, Ottawa, Canada

    M. Mahadevan, K. O'Hoy, S. Baird, L. Sabourin & R. G. Korneluk

  3. Human Genome Center, Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, California, 94550, U.S.A.

    C. Amemiya, G. Lennon, A. V. Carrano & P. J. de Jong

  4. Department of Human Genetics, University of Leiden, Leiden, The Netherlands

    M. Hofker

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Jansen, G., Mahadevan, M., Amemiya, C. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs. Nat Genet 1, 261–266 (1992). https://doi.org/10.1038/ng0792-261

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