OMIA 001518-9615 : Progressive retinal atrophy, X-linked, type 2 in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
300029
Mendelian trait/disorder:
yes
Mode of inheritance:
X-linked
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2002
Cross-species summary:
This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol:
XLPRA2
Molecular basis:
Based on a comparative positional cloning approach (the canine disorder maps to a location on the canine X chromosome that is homologous with the location of the same disorder (RP3) in humans, which is due to mutations in the RPGR gene), Zhang et al. (2002) identified a "a two-nucleotide deletion (delGA) in 1084–1085" in the canine RPGR gene as a causal mutation for a form of X-linked PRA they call XPRA2. The authors noted that this deletion "results in a frameshift that significantly changes the deduced peptide sequence, causing an increased isoelectric point (4.30 versus 4.01), and leads to the inclusion of 34 additional basic residues before prematurely terminating translation 71 amino acids downstream".
Breed:
Mongrel.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RPGR | retinitis pigmentosa GTPase regulator | Canis lupus familiaris | X | NC_006621.3 (33105036..33056371) | RPGR | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mongrel | Progressive retinal atrophy, X-linked, type 2 | RPGR | deletion, small (<=20) | "a two-nucleotide deletion (delGA) in 1084-1085" in the canine RPGR gene | 2002 | 11978759 |
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.
| 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 | Beltran, W.A., Cideciyan, A.V., Lewin, A.S., Iwabe, S., Khanna, H., Sumaroka, A., Chiodo, V.A., Fajardo, D.S., Román, A.J., Deng, W.T., Swider, M., Alemán, T.S., Boye, S.L., Genini, S., Swaroop, A., Hauswirth, W.W., Jacobson, S.G., Aguirre, G.D. : | |
| Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A 109:2132-7, 2012. Pubmed reference: 22308428. DOI: 10.1073/pnas.1118847109. | ||
| 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 | Genini, S., Zangerl, B., Slavik, J., Acland, GM., Beltran, WA., Aguirre, GD. : | |
| Transcriptional Profile Analysis of RPGRORF15 Frameshift Mutation Identifies Novel Genes Associated with Retinal Degeneration. Invest Ophthalmol Vis Sci 51:6038-50, 2010. Pubmed reference: 20574030. DOI: 10.1167/iovs.10-5443. | ||
| 2007 | Zangerl, B., Johnson, J.L., Acland, G.M., Aguirre, G.D. : | |
| Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered 98:526-30, 2007. Pubmed reference: 17646274. DOI: 10.1093/jhered/esm060. | ||
| 2006 | Beltran, WA., Hammond, P., Acland, GM., Aguirre, GD. : | |
| A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 47:1669-81, 2006. Pubmed reference: 16565408. DOI: 10.1167/iovs.05-0845. | ||
| 2002 | Zhang, Q., Acland, GM., Wu, WX., Johnson, JL., Pearce-Kelling, S., Tulloch, B., Vervoort, R., Wright, AF., Aguirre, GD. : | |
| Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11:993-1003, 2002. Pubmed reference: 11978759. |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012