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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

التفاصيل البيبلوغرافية
العنوان: X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
المؤلفون: Jean-Laurent Thibaud, Christophe Béroud, Adeline Vulin, Kevin M. Flanigan, Nicolas Wein, Nathalie Deburgrave, Stéphane Blot, Jean-Claude Kaplan, Isabel Punzón, Laurent Tiret, Cécile Peccate, Robert B. Weiss, Catherine Escriou, Inès Barthélémy, Nadège Calmels, Luis Garcia, Carole Drougard
المساهمون: Gestionnaire, Hal Sorbonne Université, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), École nationale vétérinaire - Alfort (ENVA), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, University of Utah School of Medicine [Salt Lake City], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Ohio State University [Columbus] (OSU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), École nationale vétérinaire d'Alfort (ENVA), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre de Recherche en Myologie
المصدر: Skeletal Muscle
Skeletal Muscle, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩
Skeletal Muscle, BioMed Central, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
بيانات النشر: HAL CCSD, 2020.
سنة النشر: 2020
مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Canine, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Dogs, LRMD, DMD, medicine, Dog, X-linked muscular dystrophy, Animals, Orthopedics and Sports Medicine, Animal model, Disease-causing Mutation, Muscular dystrophy, Muscle, Skeletal, Molecular Biology, Gene, Genetics, Genes, Modifier, biology, Research, Inversion, Cell Biology, medicine.disease, Phenotype, 3. Good health, Muscular Dystrophy, Duchenne, [SDV] Life Sciences [q-bio], Disease Models, Animal, 030104 developmental biology, Mutation, biology.protein, Labrador Retriever, lcsh:RC925-935, Dp71, 030217 neurology & neurosurgery, Neuromuscular disorders
الوصف: Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but the Golden Retriever muscular dystrophy (GRMD) model remains the most used in preclinical studies. Here, we report a new spontaneous dystrophinopathy in a Labrador Retriever strain, named Labrador Retriever muscular dystrophy (LRMD). Methods A colony of LRMD dogs was established from spontaneous cases. Fourteen LRMD dogs were followed-up and compared to the GRMD standard using several functional tests. The disease causing mutation was studied by several molecular techniques and identified using RNA-sequencing. Results The main clinical features of the GRMD disease were found in LRMD dogs; the functional tests provided data roughly overlapping with those measured in GRMD dogs, with similar inter-individual heterogeneity. The LRMD causal mutation was shown to be a 2.2-Mb inversion disrupting the DMD gene within intron 20 and involving the TMEM47 gene. In skeletal muscle, the Dp71 isoform was ectopically expressed, probably as a consequence of the mutation. We found no evidence of polymorphism in either of the two described modifier genes LTBP4 and Jagged1. No differences were found in Pitpna mRNA expression levels that would explain the inter-individual variability. Conclusions This study provides a full comparative description of a new spontaneous canine model of dystrophinopathy, found to be phenotypically equivalent to the GRMD model. We report a novel large DNA mutation within the DMD gene and provide evidence that LRMD is a relevant model to pinpoint additional DMD modifier genes.
وصف الملف: application/pdf
اللغة: English
تدمد: 2044-5040
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3688323d713b671b97e2b41447f24486
https://hal.sorbonne-universite.fr/hal-02934725/document
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....3688323d713b671b97e2b41447f24486
قاعدة البيانات: OpenAIRE
الوصف
تدمد:20445040