ArticlePloS one2013
A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 44 citations in OpenAlex.
- Histopathologic and ultrastructural features of the choriocapillaris in dogs with sudden acquired retinal degeneration syndrome and progressive retinal atrophy.Veterinary pathology · 2026Article
- Genetic testing drives a decline in the occurrence of the canine PRA-relatedVeterinary and animal science · 2026Article
- Whole exome sequencing as a screening tool in dogs: A pilot study.Computational and structural biotechnology journal · 2025Article
- Article
- Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.Veterinary record open · 2023Article
- CNG channel-related retinitis pigmentosa.Vision research · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- 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
- Whole-exome and whole-transcriptome sequencing of canine mammary gland tumors.Scientific data · 2019Article
- AGenes · 2019Article
- Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy EstablishesGenes · 2019Article
- Dysregulation of EMT Drives the Progression to Clinically Aggressive Sarcomatoid Bladder Cancer.Cell reports · 2019Article
- Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.Human genetics · 2019Review
- Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.JAMA ophthalmology · 2018Article
- Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation).Veterinary ophthalmology · 2018Article
- An exome sequencing based approach for genome-wide association studies in the dog.Scientific reports · 2017Article
- Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.Skeletal muscle · 2017Article
- Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Assessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary Response.Investigative ophthalmology & visual science · 2017Article
- Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive retinal degenerations are the most common causes of complete blindness both in human and in dogs. Canine progressive retinal atrophy (PRA) or degeneration resembles human retinitis pigmentosa (RP) and is characterized by a progressive loss of rod photoreceptor cells followed by a loss of cone function. The primary clinical signs are detected as vision impairment in a dim light. Although several genes have been associated with PRAs, there are still PRAs of unknown genetic cause in many breeds, including Papillons and Phalènes. We have performed a genome wide association and linkage studies in cohort of 6 affected Papillons and Phalènes and 14 healthy control dogs to map a novel PRA locus on canine chromosome 2, with a 1.9 Mb shared homozygous region in the affected dogs. Parallel exome sequencing of a trio identified an indel mutation, including a 1-bp deletion, followed by a 6-bp insertion in the CNGB1 gene. This mutation causes a frameshift and premature stop codon leading to probable nonsense mediated decay (NMD) of the CNGB1 mRNA. The mutation segregated with the disease and was confirmed in a larger cohort of 145 Papillons and Phalènes (PFisher = 1.4×10(-8)) with a carrier frequency of 17.2 %. This breed specific mutation was not present in 334 healthy dogs from 10 other breeds or 121 PRA affected dogs from 44 other breeds. CNGB1 is important for the photoreceptor cell function its defects have been previously associated with retinal degeneration in both human and mouse. Our study indicates that a frameshift mutation in CNGB1 is a cause of PRA in Papillons and Phalènes and establishes the breed as a large functional animal model for further characterization of retinal CNGB1 biology and possible retinal gene therapy trials. This study enables also the development of a genetic test for breeding purposes.
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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.