The detail information of Progressive retinal atrophy, X-linked, type 1
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Year key mutation first reported: 2002

Species-specific name: -

Species-specific symbol: XLPRA1

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB210 Samoyed 53.3-59.7 cm (male), 48.3-53.3 cm (female) 20.4-29.5 kg (male), 15.9-22.7 kg (female) Russia
CB220 Siberian Husky 53.3-61 cm (male), 50.8-55.9 cm (female) 20-27.2 kg (male), 15.9-23.1 kg (female) Russia
CB252 Weimaraner 63.5-68.6 cm (male), 58.4-63.5 cm (female) 31.8-40.8 kg (male), 24.9-34 kg (female) Germany
Associated Gene
There are no associated genes.
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.
2020 Appelbaum,T.,Santana,E.,Aguirre,G.D.: :
Critical Decrease in the Level of Axon Guidance Receptor ROBO1 in Rod Synaptic Terminals Is Followed by Axon Retraction. Invest Ophthalmol Vis Sci 61:11, 2020.
Pubmed reference: 32176262 . DOI: 10.1167/iovs.61.3.11 .
2020 Switonski,M.: :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020.
Pubmed reference: 32189222 . DOI: 10.1007/s13353-020-00554-8 .
2016 Appelbaum,T.,Becker,D.,Santana,E.,Aguirre,G.D.: :
Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis 22:319-31, 2016.
Pubmed reference: 27122963 .
2016 Kropatsch,R.,Akkad,D.A.,Frank,M.,Rosenhagen,C.,Altmüller,J.,Nürnberg,P.,Epplen,J.T.,Dekomien,G.: :
A large deletion in RPGR causes XLPRA in Weimaraner dogs. Canine Genet Epidemiol 3:7, 2016.
Pubmed reference: 27398221 . DOI: 10.1186/s40575-016-0037-x .
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 .
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 .
2007 Beltran,WA.,Wen,R.,Acland,GM.,Aguirre,GD.: :
Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina. Exp Eye Res 84:753-71, 2007.
Pubmed reference: 17320077 . DOI: 10.1016/j.exer.2006.12.019 .
2007 Guyon,R.,Pearce-Kelling,SE.,Zeiss,CJ.,Acland,GM.,Aguirre,GD.: :
Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis 13:1094-105, 2007.
Pubmed reference: 17653054 .
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 .
2002 Zangerl,B.,Zhang,Q.,Acland,G.M.,Aguirre,G.D.: :
Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered 93:70-3, 2002.
Pubmed reference: 12011183 .
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 .
2001 Zhang,Q.,Acland,G.M.,Zangerl,B.,Johnson,J.L.,Mao,Z.,Zeiss,C.J.,Ostrander,E.A.,Aguirre,G.D.: :
Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci 42:2466-71, 2001.
Pubmed reference: 11581184 .
2000 Zeiss,C.J.,Ray,K.,Acland,G.M.,Aguirre,G.D.: :
Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3) Human Molecular Genetics 9:531-537, 2000.
Pubmed reference: 10699176 .
2000 Zhang,Q.,Ray,K.,Acland,G.M.,Czarnecki,J.M.,Aguirre,G.D.: :
Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA. Gene 243:151-60, 2000.
Pubmed reference: 10675623 .
1999 Zeiss,G.J.,Acland,G.M.,Aguirre,G.D.: :
Retinal pathology of canine X-linked progressive retinal atrophy, the locus homologue of RP3 Investigative Ophthalmology & Visual Science 40:3292-3304, 1999.
Pubmed reference: 10586956 .
1994 Acland,G.M.,Blanton,S.H.,Hershfield,B.,Aguirre,G.D.: :
Animal model: XLPRA: A canine retinal degeneration inherited as an X-linked trait American Journal of Medical Genetics 52:27-33, 1994.
Pubmed reference: 7977457 . DOI: 10.1002/ajmg.1320520106 .
1980 Dice,P.F.: :
Progressive retinal atrophy in the Samoyed. Mod Vet Pract 61:59-60, 1980.
Pubmed reference: 7366567 .