The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs (original) (raw)

Nature volume 334, pages 154–156 (1988)Cite this article

Abstract

Duchenne muscular dystrophy (DMD) is the most common and the most severe of the muscular dystrophies in man1. It is inherited as an X-linked recessive trait1 and is characterized by ongoing necrosis of skeletal muscle fibres with regeneration and eventually fibrosis and fatty infiltration2. Although the gene and gene product which are defective in DMD have recently been identified3–5, the pathogenesis of the disease is still poorly understood. A myopathy has been described in the dog6–8 which has been shown to be inherited as an X-linked trait9 and which is therefore a potential model of the human disease. We have studied the phenotypic expression of the disease, canine X-linked muscular dystrophy (CXMD), and have examined the molecular relationship between it and DMD. We report here that dogs with CXMD faithfully mimic the phenotype of Duchenne muscular dystrophy and that they lack the Duchenne gene transcript and its protein product, dystrophin.

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References

  1. Moser, H. Hum. Genet. 66, 17–40 (1984).
    Article CAS Google Scholar
  2. Cullen, M. J. & Mastaglia, F. L. Br. med. Bull. 36, 145–152 (1980).
    Article CAS Google Scholar
  3. Monaco, A. P. et al. Nature 323, 646–650 (1986).
    Article ADS CAS Google Scholar
  4. Koenig, M. et al. Cell 50, 509–517 (1987).
    Article CAS Google Scholar
  5. Hoffman, E. P., Brown, R. H. Jr & Kunkel, L. M. Cell 51, 919–928 (1987).
    Article CAS Google Scholar
  6. de Lahunta, A. Veterinary Neuroanatomy and Clinical Neurology (Saunders, Philadelphia, 1977).
    Google Scholar
  7. Valentine, B. A., Cooper, B. J., Cummings, J. F. & de Lahunta, A. Acta neuropath. 71, 301–310 (1986).
    Article CAS Google Scholar
  8. Kornegay, J. N., Tuler, S. M., Miller, D. M. & Levesque, D. C. Muscle Nerve (in the press).
  9. Cooper, B. J., Valentine, B. A., Wilson, S., Patterson, D. F. & Concannon, P. W. J. Hered. (in the press).
  10. Maniatis, T., Fritsch, E. F. & Sambrook, J. in Molecular Cloning, A Laboratory Manual (Cold Spring Harbor Laboratory, New York, 1982).
    Google Scholar
  11. Hoffman, E. P., Monaco, A. P., Feener, C. C. & Kunkel, L. M. Science 238, 347–350 (1987).
    Article ADS CAS Google Scholar
  12. Hoffman, E. P. et al. New Engl. J. Med. 318, 1363–1368 (1988).
    Article CAS Google Scholar
  13. Bulfield, G., Siller, W. G., Wight, P. A. L. & Moore, K. J. Proc. natn. Acad. Sci. U.S.A. 81, 1189–1192 (1984).
    Article ADS CAS Google Scholar
  14. Carnwath, J. W. & Shotton, D. M. J. Neural. Sci. 80, 39–54 (1987).
    Article CAS Google Scholar
  15. Torres, L. F. B. & Duchen, L. W. Brain 110, 269–300 (1987).
    Article Google Scholar
  16. Hyser, C. L. et al. Ann. Neurol. 22, 553–555 (1987).
    Article CAS Google Scholar
  17. Fischbeck, K. H. & Schotland, D. L. Ann. Neurol. 13, 217 (1983).
    Article CAS Google Scholar
  18. Hausmanowa-Petrusewicz, I. & Borkowska, J. J. Neurol. 218, 48–50 (1978).
    Article Google Scholar
  19. Oronzi Scott, M. et al. Science 239, 1418–1420 (1988).
    Article ADS Google Scholar
  20. Koenig, M., Monaco, A. P. & Kunkel, L. M. Cell 53, 219–228 (1988).
    Article CAS Google Scholar
  21. Kaprielian, Z. & Fambrough, D. M. Devl Biol. 124, 490–503 (1987).
    Article CAS Google Scholar

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Authors and Affiliations

  1. Neuromuscular Diseases Laboratory, Department of Pathology, New York State College of Veterinary Medicine, Cornell University, Ithaca, New York, 14853, USA
    Barry J. Cooper, Nena J. Winand & Beth A. Valentine
  2. Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
    Hansell Stedman, Roy D. Schmickel & James E. Sylvester
  3. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
    Marion-Oronzi Scott & Kenneth H. Fischbeck
  4. Division of Genetics, The Children's Hospital, Boston, Massachusetts, 12115, USA
    Eric P. Hoffman & Louis M. Kunkel
  5. Department of Companion Animal and Special Species Medicine, School of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina, 27606, USA
    Joe N. Kornegay
  6. Department of Microbiology, New York State College of Veterinary Medicine, Cornell University, Ithaca, New York, 14853, USA
    Roger J. Avery & James R. Williams

Authors

  1. Barry J. Cooper
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  2. Nena J. Winand
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  3. Hansell Stedman
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  4. Beth A. Valentine
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  5. Eric P. Hoffman
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  6. Louis M. Kunkel
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  7. Marion-Oronzi Scott
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  8. Kenneth H. Fischbeck
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  9. Joe N. Kornegay
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  10. Roger J. Avery
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  11. James R. Williams
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  12. Roy D. Schmickel
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  13. James E. Sylvester
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Cooper, B., Winand, N., Stedman, H. et al. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.Nature 334, 154–156 (1988). https://doi.org/10.1038/334154a0

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