The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs
Abstract
Duchenne muscular dystrophy (DMD) is the most common and the most severe of the muscular dystrophies in man. It is inherited as an X-linked recessive trait and is characterized by ongoing necrosis of skeletal muscle fibres with regeneration and eventually fibrosis and fatty infiltration. Although the gene and gene product which are defective in DMD have recently been identified, the pathogenesis of the disease is still poorly understood. A myopathy has been described in the dog which has been shown to be inherited as an X-linked trait 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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Spontaneous mutations in various canines resulting in lack of dystrophin have been identified and canine muscular dystrophy lines are established.
“Spontaneous occurring mutations in various canines resulting in lack of dystrophin have been identified and canine muscular dystrophy lines are established.”
From Small and large animal models in cardiac contraction research: advantages and disadvantages (2014) · cites this paper as Cooper, et al., 1988
The Golden Retriever Muscular Dystrophy line develops cardiomyopathy closely resembling affected humans and is considered to better represent cardiac involvement in human DMD than mouse mdx counterparts.
“One of these lines is the Golden Retriever Muscular Dystrophy (Cooper, et al., 1988) which develops cardiomyopathy with features that closely resemble those of affected humans (Moise, et al., 1991; Valentine, Cooper, de Lahunta, O'Quinn, & Blue, 1988; Valentine, Cummings, & Cooper, 1989) and is considered to better represent cardiac involvement in human DMD than their mouse mdx counterparts (Nakam”
From Small and large animal models in cardiac contraction research: advantages and disadvantages (2014) · cites this paper as Cooper, et al., 1988
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References 21 · Cited by 428
- Authors
- Cooper, B. J., Winand, N. J., Stedman, H., Valentine, B. A., Hoffman, E. P., Kunkel, L. M., Scott, M.-O., Fischbeck, K. H., Kornegay, J. N., Avery, R. J., Williams, J. R., Schmickel, R. D., & Sylvester, J. E.
- Affiliations
- Cornell University (US)
- University of Pennsylvania (US)
- Boston Children's Hospital (US)
- North Carolina State University (US)
- ORCID
- Venue
- Nature
- Published
- 1988-07
- Volume
- 334
- Issue
- 6178
- Pages
- 154-156
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2091163726
- Cited by
- 428
- References
- 21
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 9 · 2020: 9 · 2019: 10 · 2018: 9 · 2017: 9 · 2016: 14 · 2015: 22 · 2014: 15 · 2013: 18 · 2012: 18
- FWCI
- 6.98
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Keywords
- Duchenne muscular dystrophy, dystrophin, dystrophin gene, X-linked recessive inheritance, skeletal muscle necrosis, fibrosis
- MeSH terms
- Animals, Dogs, Immunosorbent Techniques, Muscle Proteins, Muscular Dystrophy, Animal, X Chromosome, Dystrophin
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