ArticleMammalian genome : official journal of the International Mammalian Genome Society2012
Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic testing drives a decline in the occurrence of the canine PRA-relatedVeterinary and animal science · 2026Article
- Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.Veterinary ophthalmology · 2026Article
- Article
- Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci.Human molecular genetics · 2023Article
- Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canineFrontiers in cellular neuroscience · 2023Article
- CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.Scientific reports · 2020Article
- Review
- Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.Scientific reports · 2017Article
- Clinical studies on progressive retinal atrophy in 31 dogs.Iranian journal of veterinary research · 2017Article
- Ribosomal frameshifting and transcriptional slippage: From genetic steganography and cryptography to adventitious use.Nucleic acids research · 2016Review
- Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
- Real-time PCR genotyping assay for canine progressive rod-cone degeneration and mutant allele frequency in Toy Poodles, Chihuahuas and Miniature Dachshunds in Japan.The Journal of veterinary medical science · 2016Article
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.Scientific reports · 2016Article
- The genetics of inherited retinal disorders in dogs: implications for diagnosis and management.Veterinary medicine (Auckland, N.Z.) · 2016Review
- Dog models for blinding inherited retinal dystrophies.Human gene therapy. Clinical development · 2015Review
- Leber congenital amaurosis caused by mutations in RPGRIP1.Cold Spring Harbor perspectives in medicine · 2014Review
- Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
- The genetics of eye disorders in the dog.Canine genetics and epidemiology · 2014Review
- Article
- Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Investigative ophthalmology & visual science · 2012Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Cone-rod dystrophy (CRD) is a form of inherited retinal degeneration (RD) causing blindness in man as well as in several breeds of dog. Previously, a 44 bp insertion in RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein-1) was associated with a recessive early-onset CRD (cone-rod dystrophy 1, cord1) in a Miniature longhaired dachshund (MLHD) research colony. Yet in the MLHD pet population, extensive range of the onset age has been observed among RD cases, with some RPGRIP1(-/-) dogs lacking obvious clinical signs. Phenotypic variation has been known in human homologous diseases, including retinitis pigmentosa and Leber congenital amaurosis, indicating possible involvement of modifiers. To explore additional genetic loci associated with the phenotypic variation observed in MLHDs, a genome-wide association study was carried out using Canine SNP20 arrays in 83 RPGRIP1(-/-) MLHDs with variable ages of onset or no clinical abnormality. Using these samples, comparison of 31 early-onset RD cases against 49 controls (15 late-onset RD and 34 normal dogs combined) identified a strong association (P = 5.05 × 10(-13)) at a single locus on canine chromosome 15. At this locus, the majority of early-onset RD cases but few of the controls were homozygous for a 1.49 Mb interval containing ~11 genes. We conclude that homozygosity at both RPGRIP1 and the newly mapped second locus is necessary to develop early-onset RD, whereas RPGRIP1(-/-) alone leads to late-onset RD or no apparent clinical phenotype. This study establishes a unique model of canine RD requiring homozygous mutations at two distinct genetic loci for the manifestation of early-onset RD.
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Registered trials
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.