Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/187116
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- Title
- Independent origin and restricted distribution of RPGR deletions causing XLPRA
- Related
- Journal of heredity, Vol. 98, Issue 5, (2007), p.526-530
- DOI
- 10.1093/jhered/esm060
- Publisher
- Oxford University Press
- Date
- 2007
- Author/Creator
- Zangerl, Barbara
- Author/Creator
- Johnson, Jennifer L
- Author/Creator
- Acland, Gregory M
- Author/Creator
- Aguirre, Gustavo D
- Description
- 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.
- Description
- 5 page(s)
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/187116
- Identifier
- ISSN:0022-1503
- Identifier
- mq_res-ext-2-s2.0-34548443337
- Language
- eng
- Reviewed
