Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy (original) (raw)

• Letter
• Published: 06 February 1992
• Peggy Shelbourne1,
• June Davies1,
• Clare Jones1,
• Tracey Van Tongeren1,
• Charalampos Aslanidis2,
• Pieter de Jong2,
• Gert Jansen3,
• Maria Anvret4,
• Brien Riley5,
• Robert Williamson &
• …
• Keith Johnson1

Nature volume 355, pages 547–548 (1992)Cite this article

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Abstract

MYOTONIC dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2–14 per 100,000 individuals1. The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms. The age at onset and severity of the disease show extreme variation, both within and between families. Despite its clinical variability, this dominant condition segregates as a single locus at chromosome 19ql3.3 in every population studied1. It is flanked by the tightly linked genetic markers ERCC1 proximally_2,3_ and D19S51 distally 4,5; these define the DM critical region. We report the isolation of an expressed sequence from this region which detects a DNA fragment that is larger in affected individuals than in normal siblings or unaffected controls. The size of this fragment varies between affected siblings, and increases in size through generations in parallel with increasing severity of the disease. We postulate that this unstable DNA sequence is the molecular feature that underlies DM.

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References

1. Harper, P. S. Myotonic Dystrophy 2nd edn (Saunders, London and Philadelphia, 1989).
   Google Scholar
2. Smeets, H., Hermens, R., Brunner, H. G., Ropers, H.-H. & Wieringa, B. Genomics 9, 257–263 (1991).
   Article CAS Google Scholar
3. Shutler, G. et al. Genomics 9, 500–504 (1991).
   Article CAS Google Scholar
4. Johnson, K. et al. Am. J. hum. Genet. 46, 1073–1081 (1990).
   CAS PubMed PubMed Central Google Scholar
5. Tsilfidis, C. et al. Am. J. hum. Genet. 49, 961–965 (1991).
   CAS PubMed PubMed Central Google Scholar
6. Brunner, H. G. et al. Genomics 5, 589–595 (1989).
   Article CAS Google Scholar
7. Johnson, K. et al. Genomics 5, 746–751 (1989).
   Article CAS Google Scholar
8. Korneluk, R. et al. Genomics 5, 596–604 (1989).
   Article CAS Google Scholar
9. Brook, J. D. et al. Cytogenet. Cell Genet. 41, 30–37 (1986).
   Article CAS Google Scholar
10. Stallings, R. L. et al. Am. J. hum. Genet. 43, 144–151 (1988).
    CAS PubMed PubMed Central Google Scholar
11. Schonk, D. et al. Genomics 4, 384–396 (1989).
    Article CAS Google Scholar
12. Brook, J. D. et al. Genomics (in the press).
13. Smeets, H. et al. Am. J. hum. Genet. 46, 492–501 (1990).
    CAS PubMed PubMed Central Google Scholar
14. Bird, A. P. Nature 321, 209–213 (1986).
    Article ADS CAS Google Scholar
15. C. Aslanidis et al. Nature, 355, 548–551 (1992).
    Article ADS CAS Google Scholar
16. Brook, J. D. et al. J. med. Genet. 28, 84–88 (1991).
    Article CAS Google Scholar
17. Harley, H. G. et al. Am. J. hum. Genet. 49, 68–75 (1991).
    CAS PubMed PubMed Central Google Scholar
18. Elvin, P. et al. Nucleic Acids Res. 18, 3913–3917 (1990).
    Article ADS CAS Google Scholar
19. Wallace, M. R. et al. Science 249, 181–186 (1990).
    Article ADS CAS Google Scholar
20. Oberle, I. et al. Science 252, 1097–1102 (1991).
    Article ADS CAS Google Scholar
21. Yu, S. et al. Science 252, 1179–1181 (1991).
    Article ADS CAS Google Scholar
22. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. Nature 352, 77–79 (1991).
    Article ADS CAS Google Scholar
23. Verkerk, A. J. M. H. et al. Cell 65, 905–914 (1991).
    Article CAS Google Scholar
24. Fu, Y-H. et al. Cell 67, 1–20 (1991).
    Article Google Scholar
25. Howeler, C. J., Bush, H. F. M., Geraedts, J. P. M., Niermeijer, M. F. & Staal, A. Brain 12, 779–797 (1989).
    Article Google Scholar
26. Harley, H. G. et al. Nature 355, 545–546 (1992).
    Article ADS CAS Google Scholar
27. Koch, M. C., Grimm, T., Harley, H. G. & Harper, P. S. Am. J. hum. Genet. 48, 1084–1091 (1991).
    CAS PubMed PubMed Central Google Scholar

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Authors and Affiliations

1. Department of Anatomy, Charing Cross and Westminster Medical School, Fulham Palace Road, London, W6 8RF, UK
   Jessica Buxton, Peggy Shelbourne, June Davies, Clare Jones, Tracey Van Tongeren & Keith Johnson
2. Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California, 94550, USA
   Charalampos Aslanidis & Pieter de Jong
3. Department of Cell Biology and Histology, Faculty of Medical Sciences, University of Nijmegen, P0 Box 9101, 6500HB, Nijmegen, The Netherlands
   Gert Jansen
4. Department of Clinical Genetics, Karolinska Hospital, P0 Box 60500, S-104 01, Stockholm, Sweden
   Maria Anvret
5. Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London, W2 lPG, UK
   Brien Riley

Authors

1. Jessica Buxton
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2. Peggy Shelbourne
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3. June Davies
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4. Clare Jones
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5. Tracey Van Tongeren
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6. Charalampos Aslanidis
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7. Pieter de Jong
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8. Gert Jansen
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9. Maria Anvret
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10. Brien Riley
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11. Robert Williamson
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12. Keith Johnson
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Buxton, J., Shelbourne, P., Davies, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.Nature 355, 547–548 (1992). https://doi.org/10.1038/355547a0

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• Received: 04 December 1991
• Accepted: 23 December 1991
• Issue Date: 06 February 1992
• DOI: https://doi.org/10.1038/355547a0

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