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Independent Origin and Restricted Distribution of RPGR Deletions Causing XLPRA
- Source :
- Journal of Heredity. 98:526-530
- Publication Year :
- 2007
- Publisher :
- Oxford University Press (OUP), 2007.
-
Abstract
- Canine X-linked progressive retinal atrophy (XLPRA) is an inherited blinding disorder caused by mutations in the ORF15 of the RPGR gene and homolog to human retinitis pigmentosa 3 (RP3). The disease is observed in 2 variations, XLPRA1 in Siberian husky and samoyed and XLPRA2 derived from mongrel dogs. A third, neutral, deletion has been described in red wolves. Haplotype analysis of the 633-kbp RP3 interval in 6 different canidae confirmed the same decent for the XLPRA1 mutation in both affected breeds but suggests a recent and independent origin for both forms of XLPRA. The RP3 interval was excluded from causative associations with blindness in the red wolf and akita, a breed closely related to Nordic sled dogs. Overall, these data suggest a limited distribution of the affected haplotypes and indicate that mutations in the ORF15 are likely to be limited to the described dog breeds.
- Subjects :
- Chromosomes, Artificial, Bacterial
X Chromosome
Sex Chromosome Disorders
Biology
medicine.disease_cause
Polymorphism, Single Nucleotide
Open Reading Frames
Dogs
Polymorphism (computer science)
Retinitis pigmentosa
Genetics
medicine
Animals
Dog Diseases
Cloning, Molecular
Molecular Biology
Gene
Genetics (clinical)
X chromosome
Progressive retinal atrophy
Mutation
Haplotype
Chromosome Mapping
medicine.disease
eye diseases
Breed
Biotechnology
Subjects
Details
- ISSN :
- 14657333 and 00221503
- Volume :
- 98
- Database :
- OpenAIRE
- Journal :
- Journal of Heredity
- Accession number :
- edsair.doi.dedup.....a708d710b453377ef1c68522442d15bd