ArticleLaboratory investigation; a journal of technical methods and pathology2011
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed.
Article in Laboratory investigation; a journal of technical methods and pathology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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Who cites it
70 citing papers in PubMed, 89 citations in OpenAlex.
- Dystrophin-Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene.Veterinary medicine and science · 2026Article
- A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons.Mobile DNA · 2026Article
- Canine Model of Duchenne Muscular Dystrophy.Methods in molecular biology (Clifton, N.J.) · 2026Article
- A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons.bioRxiv : the preprint server for biology · 2025Article
- Transposon expression and repression in skeletal muscle.Mobile DNA · 2025Review
- Circulatory CCL2 distinguishes Duchenne muscular dystrophy dogs.Disease models & mechanisms · 2025Article
- Adeno-Associated Virus 8 and 9 Myofibre Type/Size Tropism Profiling Reveals Therapeutic Effect of Microdystrophin in Canines.Journal of cachexia, sarcopenia and muscle · 2025Article
- SERCA2a overexpression improves muscle function in a canine Duchenne muscular dystrophy model.Molecular therapy. Methods & clinical development · 2024Article
- Gene editing in small and large animals for translational medicine: a review.Animal reproduction · 2024Review
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants.Genes · 2023Article
- CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies.WIREs mechanisms of disease · 2023Review
- Review
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber-type switch in Duchenne muscular dystrophy dogs.Disease models & mechanisms · 2021Article
- Cas9-specific immune responses compromise local and systemic AAV CRISPR therapy in multiple dystrophic canine models.Nature communications · 2021Article
- CRISPR/Cas correction of muscular dystrophies.Experimental cell research · 2021Article
- Dystrophin deficiency impairs vascular structure and function in the canine model of Duchenne muscular dystrophy.The Journal of pathology · 2021Article
- Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency.Veterinary medicine and science · 2021Article
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.Skeletal muscle · 2021Article
- A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.BMC genetics · 2020Article
10 more citing papers are in PubMed but not listed here.
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7 authors at 3 institutions in 1 country.
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Abstract
Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient humans and dogs. Although Duchenne-like symptoms have been observed in more than a dozen dog breeds, the mutation is often not known and research colonies are rarely established. Here, we report an independent canine DMD model originally derived from the Pembroke Welsh corgi breed. The affected dogs presented clinical signs of muscular dystrophy. Immunostaining revealed the absence of dystrophin and upregulation of utrophin. Histopathologic examination showed variable fiber size, central nucleation, calcification, fibrosis, neutrophil and macrophage infiltration and cardiac focal vacuolar degeneration. Carrier dogs also displayed mild myopathy. The mutation was identified as a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon. Similar mutations have been seen in human patients. A colony was generated by crossing carrier females with normal males. Affected puppies had a normal birth weight but they experienced a striking growth delay in the first 5 days. In summary, the new corgi DMD model offers an excellent opportunity to study DMD pathogenesis and to develop novel therapies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.