OMIA 001260-9615 : Rod-cone dysplasia 2 in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 610612

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

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

Species-specific symbol: rcd2

Molecular basis: Kukekova et al. (2009) showed that rod-cone dysplasia type 2 (rcd2) in Collies is due to an insertion mutation in the canine homologue of the human RD3 gene, previously known as C1ORF36.

Breed: Collie.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RD3 retinal degeneration 3 Canis lupus familiaris 7 NC_006589.3 (9875980..9875369) RD3 Homologene, Ensembl, NCBI gene

Variants

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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
Collie Rod-cone dysplasia 2 RD3 insertion, gross (>20) "22 bp insertion changes the last 61 amino acids of the encoded protein" 2009 19130129

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.
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.
2010 Azadi, S., Molday, L.L., Molday, R.S. :
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A 107:21158-63, 2010. Pubmed reference: 21078983. DOI: 10.1073/pnas.1010460107.
2009 Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. :
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20:109-23, 2009. Pubmed reference: 19130129. DOI: 10.1007/s00335-008-9163-4.
2006 Kukekova, AV., Nelson, J., Kuchtey, RW., Lowe, JK., Johnson, JL., Ostrander, EA., Aguirre, GD., Acland, GM. :
Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-5, 2006. Pubmed reference: 16505060. DOI: 10.1167/iovs.05-0861.
2002 Akhmedov, N.B., Baldwin, V.J., Zangerl, B., Kijas, J.W., Hunter, L., Minoofar, K.D., Mellersh, C., Ostrander, E.A., Acland, G.M., Farber, D.B., Aguirre, G.D. :
Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog Molecular Vision 8:79-84, 2002. Pubmed reference: 11951083.
1999 Wang, W.Q., Acland, G.M., Ray, K., Aguirre, G.D. :
Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism Experimental Eye Research 69:445-453, 1999. Pubmed reference: 10504278. DOI: 10.1006/exer.1999.0720.
Wang, W.Q., Zhang, Q., Acland, G.M., Mellersh, C., Ostrander, E.A., Ray, K., Aguirre, G.D. :
Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D) Gene 236:325-332, 1999. Pubmed reference: 10452952.
1997 Akhmedov, N.B., Piriev, N.I., Ray, K., Acland, G.M., Aguirre, G.D., Farber, D.B. :
Structure and analysis of the transducin BETA-3-SUBUNIT gene, a candidate for inherited cone degeneration (cd) in the dog Gene 194:47-56, 1997. Pubmed reference: 9266671.
Kylma, T., Paulin, L., Hurwitz, M.Y., Hurwitz, R.L., Kommonen, B. :
Cloning and analysis of the cdna encoding the rod g-protein transducin alpha, BETA-1 and GAMMA-1 subunits from the canine retina Gene 193:1-4, 1997. Pubmed reference: 9249060.
Ray, K., Baldwin, V.J., Zeiss, C., Acland, G.M., Aguirre, G.D. :
Canine rod transducin ALPHA-1 - cloning of the cdna and evaluation of the gene as a candidate for progressive retinal atrophy Current Eye Research 16:71-77, 1997. Pubmed reference: 9043826.
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.
1982 Woodford, B.J., Liu, Y., Fletcher, R.T., Chader, G.J., Farber, D.B., Santos-Anderson, R., Tso, M.O. :
Cyclic nucleotide metabolism in inherited retinopathy in collies: a biochemical and histochemical study. Exp Eye Res 34:703-14, 1982. Pubmed reference: 6282610.

Edit History


  • Created by Frank Nicholas on 12 Jul 2009
  • Changed by Frank Nicholas on 14 Sep 2011
  • Changed by Frank Nicholas on 29 Nov 2011
  • Changed by Frank Nicholas on 12 Dec 2011