OMIA:000882-9615 : Retinal atrophy - Rod-cone dysplasia 1 in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 163500 (trait) , 613801 (trait) , 180072 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1993
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol: rcd1
Molecular basis: By cloning and sequencing a very likely candidate gene (based on detailed biochemical comparisons of affected and normal Irish Setter dogs), Suber et al. (1993) reported a causative mutation as being "a nonsense amber mutation at codon 807 (a G-->A transition converting TGG to TAG), which was confirmed to be present in putative exon 21 of the affected beta-subunit gene [PDE6B]. The premature stop codon truncates the beta subunit by 49 residues, thus removing the C-terminal domain that is required for posttranslational processing and membrane association."
Breed:
Irish Setter (Dog) (VBO_0200702).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PDE6B | phosphodiesterase 6B, cGMP-specific, rod, beta | Canis lupus familiaris | 3 | NC_051807.1 (92774237..92746064) | PDE6B | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 282 | Irish Setter (Dog) | Rod-cone dysplasia 1 | PDE6B | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 3 | g.91747713C>T | c.2421G>A | p.(W807*) | NM_001002934.1; NP_001002934.1 | 1993 | 8387203 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000882-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. : |
| Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77. | |
| 2022 | Badiei, A., Beltran, W.A., Aguirre, G.D. : |
| Altered transsulfuration pathway enzymes and redox homeostasis in inherited retinal degenerative diseases. Exp Eye Res 215:108902, 2022. Pubmed reference: 34954206. DOI: 10.1016/j.exer.2021.108902. | |
| Nikonov, S., Aravand, P., Lyubarsky, A., Nikonov, R., Luo, A.J., Wei, Z., Maguire, A.M., Phelps, N.T., Shpylchak, I., Willett, K., Aleman, T.S., Huckfeldt, R.M., Ramachandran, P.S., Bennett, J. : | |
| Restoration of vision and retinal responses after adeno-associated virus-mediated optogenetic therapy in blind dogs. Transl Vis Sci Technol 11:24, 2022. Pubmed reference: 35604672. DOI: 10.1167/tvst.11.5.24. | |
| 2021 | Genetics Committee of the American College of Veterinary Opthalmologists : |
| The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. | |
| Sudharsan, R., Murgiano, L., Tang, H.Y., Olsen, T.W., Chavali, V.R.M., Aguirre, G.D., Beltran, W.A. : | |
| Short prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration. Sci Rep 11:460, 2021. Pubmed reference: 33432105. DOI: 10.1038/s41598-020-80691-6. | |
| 2017 | Sudharsan, R., Beiting, D.P., Aguirre, G.D., Beltran, W.A. : |
| Involvement of innate immune system in late stages of inherited photoreceptor degeneration. Sci Rep 7:17897, 2017. Pubmed reference: 29263354. DOI: 10.1038/s41598-017-18236-7. | |
| 2016 | Pichard, V., Provost, N., Mendes-Madeira, A., Libeau, L., Hulin, P., Tshilenge, K.T., Biget, M., Ameline, B., Deschamps, J.Y., Weber, M., Le Meur, G., Colle, M.A., Moullier, P., Rolling, F. : |
| AAV-mediated gene therapy halts retinal degeneration in PDE6β-deficient dogs. Mol Ther 24:867-76, 2016. Pubmed reference: 26857842. DOI: 10.1038/mt.2016.37. | |
| 2014 | Genini, S., Guziewicz, K.E., Beltran, W.A., Aguirre, G.D. : |
| Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014. Pubmed reference: 24581223. DOI: 10.1186/1471-2164-15-172. | |
| 2013 | Genini, S., Beltran, W.A., Aguirre, G.D. : |
| Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One 8:e85408, 2013. Pubmed reference: 24367709. DOI: 10.1371/journal.pone.0085408. | |
| 2012 | Miyadera, K., Acland, G.M., Aguirre, G.D. : |
| Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3. | |
| 2005 | Güven, D., Weiland, J.D., Fujii, G., Mech, B.V., Mahadevappa, M., Greenberg, R., Roizenblatt, R., Qiu, G., Labree, L., Wang, X., Hinton, D., Humayun, M.S. : |
| Long-term stimulation by active epiretinal implants in normal and RCD1 dogs. J Neural Eng 2:S65-73, 2005. Pubmed reference: 15876657. DOI: 10.1088/1741-2560/2/1/009. | |
| 2004 | Panzan, CQ., Guven, D., Weiland, JD., Lakhanpal, RR., Javaheri, M., de Juan, E., Humayun, MS. : |
| Retinal thickness in normal and RCD1 dogs using optical coherence tomography. Ophthalmic Surg Lasers Imaging 35:485-93, 2004. Pubmed reference: 15580972. | |
| 1999 | Aguirre, G.D., Baldwin, V., Weeks, K.M., Acland, G.M., Ray, K. : |
| Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration Journal of Heredity 90:143-147, 1999. Pubmed reference: 9987922. | |
| Zuleger, B., Kuhnlein, P., Muller, E. : | |
| A case-report on a carrier of the PRA-causing mutation in Irish Setters in Germany [German] Kleintierpraxis 44:211-212, 1999. | |
| 1997 | Kommonen, B., Kylma, T., Karhunen, U., Dawson, W.W., Penn, J.S. : |
| Impaired retinal function in young labrador retriever dogs heterozygous for late onset rod-cone degeneration Vision Research 37:365-370, 1997. Pubmed reference: 9135869. | |
| 1995 | Mclaughlin, M.E., Ehrhart, T.L., Berson, E.L., Dryja, T.P. : |
| Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa Proceedings of the National Academy of Sciences of the United States of America 92:3249-3253, 1995. Pubmed reference: 7724547. | |
| Petersen-Jones, S.M., Clements, P.J.M., Barnett, K.C., Sargan, D.R. : | |
| Incidence of the gene mutation causal for rod-cone dysplasia type 1 in Irish setters in the UK Journal of Small Animal Practice 36:310-314, 1995. Pubmed reference: 7474961. | |
| Ray, K., Baldwin, V.J., Acland, G.M., Aguirre, G.D. : | |
| Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters Current Eye Research 14:243-247, 1995. Pubmed reference: 7796608. | |
| Sargan, D.R. : | |
| Research in canine and human genetic disease Journal of Medical Genetics 32:751-754, 1995. Pubmed reference: 8544201. | |
| 1994 | Ray, K., Baldwin, V.J., Acland, G.M., Blanton, S.H., Aguirre, G.D. : |
| Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1 Investigative Ophthalmology & Visual Science 35:4291-4299, 1994. Pubmed reference: 8002249. | |
| 1993 | Clements, P.J.M., Gregory, C.Y., Petersen-Jones, S.M., Sargan, D.R., Bhattacharya, S.S. : |
| Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test Current Eye Research 12:861-866, 1993. Pubmed reference: 8261797. | |
| Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L. : | |
| Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203. | |
| 1992 | Farber, D.B., Danciger, J.S., Aguirre, G. : |
| The beta-Subunit of Cyclic GMP Phosphodiesterase Messenger RNA Is Deficient in Canine Rod-Cone Dysplasia-1 Neuron 9:349-356, 1992. Pubmed reference: 1323314. | |
| 1990 | Farber, D.B., Danciger, J.S., Aguirre, G. : |
| Early mRNA defect in Irish setter dog retina Investigative Opthalmology and Visual Sciences 31 (Supplement):310 only, 1990. | |
| 1989 | Acland, G.M., Fletcher, R.T., Gentleman, S., Chader, G.J., Aguirre, G.D. : |
| Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989. Pubmed reference: 2558906. | |
| 1988 | Barbehenn, E., Gagnon, C., Noelker, D., Aguirre, G., Chader, G. : |
| Inherited rod-cone dysplasia: abnormal distribution of cyclic GMP in visual cells of affected Irish setters Experimental Eye Research 46:149-159, 1988. Pubmed reference: 2895011. | |
| 1982 | Aguirre, G.D., Farber, D., Lolley, R., O'Brien, P., Alligood, J., Fletcher, R.T., Chader, G.J. : |
| Retinal degeneration in the dog. III. Abnormal cyclic nucleotide metabolism in rod-cone dysplasia Experimental Eye Research 35:625-642, 1982. Pubmed reference: 6295790. | |
| 1980 | Buyukmihci, N., Aguirre, G., Marshall, J. : |
| Retinal degenerations in the dog. II. Development of the retina in rod-cone dysplasia Experimental Eye Research 30:575-591, 1980. Pubmed reference: 7409013. | |
| 1978 | Aguirre, G.D., Lolley, R., Farber, D., Fletcher, T., Chader, G.J. : |
| Rod–cone dysplasia in Irish setter dogs: a defect in cyclic GMP metabolism in visual cells Science 201:1133-1135, 1978. | |
| 1975 | Aguirre, G.D., Rubin, L.F. : |
| The electroretinogram in dogs with inherited cone degeneration Investigative Ophthalmology 14:840-847, 1975. Pubmed reference: 1081095. | |
| 1953 | Parry, H.B. : |
| Degeneration of the dog retina. II. Generalised progressive atrophy of hereditary origin British Journal of Ophthalmology 37:487-502, 1953. Pubmed reference: 13081944. | |
| Parry, H.B. : | |
| Degenerations of the dog retina. I. Structure and development of the retina of the normal dog British Journal of Ophthalmology 37:385-404, 1953. Pubmed reference: 13059279. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 29 Aug 2012
- Changed by Frank Nicholas on 15 Oct 2016
- Changed by Imke Tammen2 on 08 Sep 2022