ArticleInvestigative ophthalmology & visual science2011
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 35 citations in OpenAlex.
- Evaluation of the Toxicity and Efficacy of an Adeno-Associated Viral Vector ExpressingHuman gene therapy · 2026Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Canine models of inherited retinal diseases: from neglect to well-recognized translational value.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Canine Best disease as a translational model.Eye (London, England) · 2025Review
- Differential gene expression between central and peripheral retinal regions in dogs and comparison with humans.Experimental eye research · 2024Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Optic nerve colobomas associated with unilateral focal serous retinal detachment in a dog - In-vivo imaging and outcome following laser retinopexy.Veterinary ophthalmology · 2021Article
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.Scientific reports · 2018Article
- Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.Scientific reports · 2018Article
- Bestrophin 1 and retinal disease.Progress in retinal and eye research · 2017Review
- Bestrophinopathy: An RPE-photoreceptor interface disease.Progress in retinal and eye research · 2017Review
- Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Observational
- The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.Veterinary medicine (Auckland, N.Z.) · 2016Review
- Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.Experimental eye research · 2015Article
- Effects of alternative splicing on the function of bestrophin-1 calcium-activated chloride channels.The Biochemical journal · 2014Article
- Article
- Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.PloS one · 2013Article
- Modeling the structural consequences of BEST1 missense mutations.Advances in experimental medicine and biology · 2012Article
- Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies.Therapeutic advances in ophthalmologyReview
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5 authors at 1 institution in 1 country.
Funding
Abstract
purposeBestrophin-1 gene (BEST1) mutations are responsible for a broad spectrum of human retinal phenotypes, jointly called bestrophinopathies. Canine multifocal retinopathy (cmr), caused by mutations in the dog gene ortholog, shares numerous phenotypic features with human BEST1-associated disorders. The purpose of this study was the assessment of molecular consequences and pathogenic outcomes of the cmr1 (C(73)T/R(25)X) premature termination and the cmr2 (G(482)A/G(161)D) missense mutation of the canine model compared with the C(87)G/Y(29)X mutation observed in human patients.
methodsDogs carrying the BEST1 mutation were introduced into a breeding colony and used to produce either carrier or affected offspring. Eyes were collected immediately after euthanatization at the disease-relevant ages and were harvested for expression studies. In parallel, an in vitro cell culture model system was developed and compared with in vivo
results
resultsThe results demonstrate that cmr1 and human C(87)G-mutated transcripts bypass the nonsense-mediated mRNA decay machinery, suggesting the AUG proximity effect as an underlying transcriptional mechanism. The truncated protein, however, is not detectable in either species. The in vitro model accurately recapitulates transcriptional and translational expression events observed in vivo and, thus, implies loss of bestrophin-1 function in cmr1-dogs and Y(29)X-affected patients. Immunofluorescence microscopy of cmr2 mutant showed mislocalization of the protein.
conclusionsMolecular evaluation of cmr mutations in vivo and in vitro constitutes the next step toward elucidating genotype-phenotype interactions concerning human bestrophinopathies and emphasizes the importance of the canine models for studying the complexity of the BEST1 disease mechanism.
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