Independent Origin and Restricted Distribution of RPGR Deletions Causing XLPRA.
Zangerl, Barbara; Johnson, Jennifer L.; Acland, Gregory M.; Aguirre, Gustavo D.
[Article] Journal of Heredity. Symposium Issue: Third International Conference-Advances in Canine and Feline Genomics School of Veterinary Medicine, University of California, Davis, CA, August 3-5, 2006.. 98(5):526-530, July/August 2007.

(Format: HTML, PDF)

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.

(C) American Genetic Association 2007. Published by Oxford University Press. All rights reserved.