Independent origin and restricted distribution of RPGR deletions causing XLPRA

J Hered. 2007;98(5):526-30. doi: 10.1093/jhered/esm060. Epub 2007 Jul 23.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial
  • Cloning, Molecular
  • Dog Diseases / genetics*
  • Dogs
  • Open Reading Frames
  • Polymorphism, Single Nucleotide*
  • Sex Chromosome Disorders / genetics
  • Sex Chromosome Disorders / veterinary*
  • X Chromosome*