Independent origin and restricted distribution of RPGR deletions causing XLPRA

Barbara Zangerl, Jennifer L. Johnson, Gregory M. Acland, Gustavo D. Aguirre

Research output: Contribution to journalArticle

4 Citations (Scopus)

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. © The American Genetic Association. 2007. All rights reserved.
Original languageEnglish
Pages (from-to)526-530
Number of pages5
JournalJournal of Heredity
Volume98
Issue number5
DOIs
Publication statusPublished - 2007
Externally publishedYes

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