Abstract
Progressive Retinal Atrophy is a group of genetically inherited diseases in various canine breeds. The disease begins with retinal damage and progresses to blindness. Abnormalities in various genes are linked with different disease variants, and in most cases, involvement of one gene towards PRA is specific to one breed. However, Progressive Rod Cone Degeneration (PRCD) is an outlier. PRCD anomaly is associated with PRA in more than 20 breeds. The same gene mutation which causes PRA-prcd in dogs causes a form of Retinitis Pigmentosa in human. X-Linked Progressive Retinal Atrophy (XLPRA); a type of PRA, is a result of deletion in Retinitis Pigmentosa GTPase Regulator (RPGR). RPGR is a locus homologue of human Retinitis pigmentosa (RP3). We analyzed 22 clinically PRA positive dog samples for PRCD and RPGR association with PRA. We employed PCR-RFLP, capillary gel electrophoresis and sequencing. Experiment data suggests that tested mutation of PRCD has no association with PRA in all 15 Pomeranian and 1 Mongrel dogs which are locally bred by Indian breeders. In contrary, all English Cocker spaniel and Labrador Retriever samples showed PRCD association with PRA. Furthermore, accountability of tested mutations in RPGR has been concluded to be nil in all of the test samples.
Highlights
Progressive Retinal Atrophy (PRA) is a group of genetic diseases found in 100 plus canine breeds [1]
We aim to identify if there is an association with Progressive Rod Cone Degeneration (PRCD) and/or Retinitis Pigmentosa GTPase Regulator (RPGR) gene mutation and PRA in sampled breeds
Our data shows that of all PRCD amplified from PRA positive samples are of same size as normal/control
Summary
Progressive Retinal Atrophy (PRA) is a group of genetic diseases found in 100 plus canine breeds [1]. The disease causes great deal of discomfort in the breeding industry as well as to the owners as the disease is incurable. Canine PRA has potential to serve as an animal model in human Retinitis Pigmentosa (RP) [2]. This is due to shared molecular defects and/or phenotypic similarities [3]. In the field of Veterinary science, it is critical to understand, avoid and eradicate PRA. Strong association of PRA with human RP promises to answer essential questions on the disease
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
