OMIA 001298-9615 : Progressive rod-cone degeneration in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610598 , 610599

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2006

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific symbol: prcd

Mapping: Using the power of comparative mapping, Acland et al. (1998) showed that this disorder in dogs maps to the same location as the gene for retinitis pigmentosa 17 in humans.

Molecular basis: Zangerl et al. (2006) identified a novel gene that they called PRCD in a 106kb candidate region on CFA9. They also showed that "a homozygous mutation (TGC>TAC) in the second codon shows complete concordance with the disorder in 18 different dog breeds/breed varieties tested".

Prevalence: Lewis and Mellersh (2019) reported a decline in frequency of the PRCD:c.5G>A variant in Labrador Retrievers from 0.078 (7.8%) prior to publication of the variant, to 0.003 (0.3%) 8-10 years after publication of the variant. This represents a 96.5% decline in frequency of the variant as a result of testing. For the same variant in English Cocker Spaniels, the equivalent results were a decline in frequency from 0.126 (12.6%) to 0.006 (0.6%) 8-10 years after publication of the variant, which represents a decline in frequency of 95.1% as a result of testing.

Breeds: American cocker spaniel, Australian Cattle Dog, Australian Shepherd, Australian stumpy tail cattle dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian bear dog, Kuvasz, Labrador Retriever, Lapponian Herder , Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling retriever, Portugese water dog, Spanish water dog, Swedish Lapphund, Toy Poodle, Yorkshire Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRCD progressive rod-cone degeneration Canis lupus familiaris 9 NC_006591.3 (4190658..4179757) PRCD Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
American cocker spaniel Australian Cattle Dog Australian Shepherd Australian stumpy tail cattle dog Chesapeake Bay Retriever Chinese Crested Dog English Cocker Spaniel Entlebucher mountain dog Finnish Lapphund Golden Retriever Karelian bear dog Kuvasz Labrador Retriever Lapponian Herder Miniature Poodle Norwegian Elkhound Nova Scotia Duck Tolling retriever Portugese water dog Spanish water dog Swedish Lapphund Toy Poodle Yorkshire Terrier Progressive rod-cone degeneration PRCD missense CanFam3.1 9 g.4188663G>A c.5G>A p.C2Y 2006 16938425 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2019 Lewis, T.W., Mellersh, C.S. :
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864.
2016 Spencer, W.J., Pearring, J.N., Salinas, R.Y., Loiselle, D.R., Skiba, N.P., Arshavsky, V.Y. :
Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability. Biochemistry :, 2016. Pubmed reference: 27509380. DOI: 10.1021/acs.biochem.6b00489.
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.
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.
2009 Gentilini, F., Rovesti, GL., Turba, ME. :
Real-time detection of the mutation responsible for progressive rod-cone degeneration in Labrador Retriever dogs using locked nucleic acid TaqMan probes. J Vet Diagn Invest 21:689-92, 2009. Pubmed reference: 19737766.
2006 Goldstein, O., Zangerl, B., Pearce-Kelling, S., Sidjanin, D.J., Kijas, J.W., Felix, J., Acland, G.M., Aguirre, G.D. :
Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-50, 2006. Pubmed reference: 16859891. DOI: 10.1016/j.ygeno.2006.05.013.
Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. :
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics :, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
2003 Sidjanin, D.J., Miller, B., Kijas, J., McElwee, J., Pillardy, J., Malek, J., Pai, G., Feldblyum, T., Fraser, C., Acland, G., Aguirre, G. :
Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. Genomics 81:138-48, 2003. Pubmed reference: 12620391.
1999 Gu, W.K., Ray, K., Pearce-Kelling, S., Baldwin, V.J., Langston, A.A., Ray, J., Ostrander, E.A., Acland, G.M., Aguirre, G.D. :
Evaluation of the APOH gene as a positional candidate for prcd in dogs Investigative Ophthalmology & Visual Science 40:1229-1237, 1999. Pubmed reference: 10235557.
1998 Acland, G.M., Ray, K., Mellersh, C.S., Gu, W.K., Langston, A.A., Rine, J., Ostrander, E.A., Aguirre, G.D. :
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans Proceedings of the National Academy of Sciences of the United States of America 95:3048-3053, 1998. Pubmed reference: 9501213.
Anon. :
Researchers discover likely link between human, canine gene and blindness Journal of the American Veterinary Medical Association 212:1532, 1998. Pubmed reference: 9634355.
Gu, W.K., Acland, G.M., Langston, A.A., Ostrander, E.A., Aguirre, G.D., Ray, K. :
Identification of a RAPD marker linked to progressive rod-cone degeneration in dogs Mammalian Genome 9:740-744, 1998. Pubmed reference: 9716659.
Lin, C.T., Petersenjones, S.M., Sargan, D.R. :
Isolation and investigation of canine phosducin as a candidate for canine generalized progressive retinal atrophies Experimental Eye Research 67:473-480, 1998. Pubmed reference: 9820795. DOI: 10.1006/exer.1998.0569.
1997 Gould, D.J., Petersenjones, S.M., Lin, C.T., Sargan, D.R. :
Cloning of canine ROM-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs Animal Genetics 28:391-396, 1997. Pubmed reference: 9589581.
1996 Ray, K., Acland, G.M., Aguirre, G.D. :
Nonallelism of erd and prcd and exclusion of the canine rds peripherin gene as a candidate for both retinal degeneration loci Investigative Ophthalmology & Visual Science 37:783-794, 1996. Pubmed reference: 8603863.
1990 Acland, G.M., Halloranblanton, S., Boughman, J.A., Aguirre, G.D. :
Segregation Distortion in Inheritance of Progressive Rod Cone Degeneration (Prcd) in Miniature Poodle Dogs American Journal of Medical Genetics 35:354-359, 1990. Pubmed reference: 2309782. DOI: 10.1002/ajmg.1320350309.
1988 Aguirre, G.D., Acland, G.M. :
Variation in retinal degeneration phenotype inherited at the prcd locus Experimental Eye Research 46:663-387, 1988. Pubmed reference: 3164273.
1982 Aguirre, G., Alligood, J., O'Brien, P., Buyukmihci, N. :
Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci 23:610-30, 1982. Pubmed reference: 6215376.

Edit History


  • Created by Frank Nicholas on 16 Oct 2006
  • Changed by Frank Nicholas on 29 Sep 2011
  • Changed by Frank Nicholas on 02 Dec 2011
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  • Changed by Frank Nicholas on 27 Sep 2019
  • Changed by Frank Nicholas on 03 Oct 2019