ArticleInvestigative ophthalmology & visual science2012
Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.
Article in Investigative ophthalmology & visual science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant.Veterinary ophthalmology · 2026Article
- Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.PLoS genetics · 2025Article
- 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
- Review
- Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling.Nature communications · 2019Article
- Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune-mediated nature of retinal damage.Veterinary ophthalmology · 2019Article
- Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.Scientific reports · 2017Article
- 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
- 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
- A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.PloS one · 2015Article
- Leber congenital amaurosis caused by mutations in RPGRIP1.Cold Spring Harbor perspectives in medicine · 2014Review
- A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.Japanese journal of ophthalmology · 2014Article
- 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
- Investigating the inheritance of prolapsed nictitating membrane glands in a large canine pedigree.Veterinary ophthalmology · 2013Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
purposeCanine cone-rod dystrophy 1 (cord1) has been previously mapped to CFA15, and a homozygous 44-bp insertion in exon 2 (Ins44) of canine RPGRIP1 (cRPGRIP1(Ins/Ins)) has been associated with the disease. However, from the recent identification of a significant discordance in genotype-phenotype association, we have reexamined the role of cRPGRIP1 in cord1.
methodsRetinal structure and function was assessed by clinical retinal examination, noninvasive imaging, electroretinography, and histopathology/immunohistochemistry. cRPGRIP1 splicing was analyzed by RT-PCR. Retinal gene expression was determined by quantitative RT-PCR (qRT-PCR). Five markers spanning the entire cRPGRIP1 were identified and used for haplotyping.
resultsElectroretinography demonstrated that cone responses were absent or present in cRPGRIP1(Ins/Ins) individuals. Moreover, performance in vision testing and optical coherence tomography (OCT) were comparable in cRPGRIP1(Ins/Ins) dogs, regardless of the cone ERG status. While histologic changes in retinal structure were minimal, immunohistochemistry demonstrated a lack of cone opsin labeling in cRPGRIP1(Ins/Ins) dogs. cDNA analysis revealed that Ins44 disrupts a putative exonic splicing enhancer that allows for skipping of exon 2, while retaining the functional RPGR-interacting domain (RID) of the protein. New cRPGRIP1 sequence changes were identified, including a 3-bp deletion affecting the 3' acceptor splice site of alternative exon 19c. The extended haplotype spanning cRPGRIP1 was identical in cRPGRIP1(Ins/Ins) dogs with and without retinal degeneration. Gene expression analysis showed that expression levels were not associated with Ins44 genotype.
conclusionsThe results indicated that cRPGRIP1 Ins44 is an unlikely primary cause of cord1, and that the causal gene and mutation are likely located elsewhere in the critical disease interval.
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