OMIA 001572-9615 : Golden Retriever PRA 1 in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

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

Species-specific symbol: GR_PRA1

Mapping: By conducting a GWAS on 27 affected and 19 control Swedish Golden Retrievers, each genotyped with the CanineSNP20 BeadChip (yielding 14,389 informative SNPs for analysis), Downs et al. (2011) mapped this disorder to a region on chromosome CFA37. Subsequent homozygosity mapping narrowed the region to 644kb, which contains 27 genes.

Molecular basis: By sequencing the most likely functional candidate gene from the candidate region (see Mapping section), Downs et al. (2011) identified a causal mutation as "a frame shift mutation [in SLC4A3] caused by the insertion of a single cytosine in exon 16 (c.2601_2602insC; CFA37:29,147,633). It is predicted to cause a premature stop codon in exon 18 (p.E868RfsX104) possibly resulting in degradation of the mRNA by nonsense-mediated decay (NMD) or a truncated protein product". Although this mutation is causal in the families in which it exists, it does not account for all cases of the disorder in this breed.

Breed: Golden Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC4A3 solute carrier family 4 (anion exchanger), member 3 Canis lupus familiaris 37 NC_006619.3 (26136589..26149312) SLC4A3 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
Golden Retriever Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) 37 g.29147633 c.2601_2602insC 2011 21738669

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.
2011 Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. :
A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.

Edit History


  • Created by Frank Nicholas on 12 Jul 2011
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 02 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 22 May 2013