Journal of Heredity Advance Access published online on July 23, 2007
Journal of Heredity, doi:10.1093/jhered/esm060
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Independent Origin and Restricted Distribution of RPGR Deletions Causing XLPRA
From the Section of Ophthalmology, Department of Clinical Studies-Philadelphia, University of Pennsylvania, Philadelphia, PA (Zangerl and Aguirre); and the J.A. Baker Institute, Cornell University, Ithaca, NY (Johnson and Acland)
Address correspondence to B. Zangerl, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA 19104, or e-mail: bzangerl{at}vet.upenn.edu.
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.
This paper was delivered at the 3rd International Conference on the Advances in Canine and Feline Genomics, School of Veterinary Medicine, University of California, Davis, CA, August 3–5, 2006.