Identification of genetic variants in PDC, RHO, PDE6A and PDE6B in dogs with progressive retinal atrophy

The progressive retinal atrophy (PRA) is an inherited eye disease and characterized by progressive retinal degeneration which leads to impaired vision in dogs. Using targeted next generation sequencing of nine PRA cases and six controls, we have identified SNPs in PDC, PDE6A and PDE6B, which were no...

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Published in:Current science (Bangalore) 2016-11, Vol.111 (10), p.1640-1648
Main Authors: Pandya, Dipal Y., Kelawala, Divyesh N., Patel, Namrata V., Shah, Tejas M., Patel, Anand B., Parmar, Nidhi R., Reddy, Bhaskar, Patil, Deepak B., Joshi, Chaitanya G.
Format: Article
Language:English
Subjects:
Animal genetics
Canines
Dogs
Genetic mutation
Genomes
Introns
Medical genetics
Retinal diseases
Retinal rods
Transcriptional regulatory elements
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Summary:The progressive retinal atrophy (PRA) is an inherited eye disease and characterized by progressive retinal degeneration which leads to impaired vision in dogs. Using targeted next generation sequencing of nine PRA cases and six controls, we have identified SNPs in PDC, PDE6A and PDE6B, which were not previously associated with PRA. The gene in which the highest mutations found was PDE6A (113 and 104 SNPs), followed by PDE6B, PDC and RHO in all dog breeds and Spitz-only respectively. Five SNPs identified in PDC gene of Spitz-only breed showed significant association with PRA. However, no pathogenetically relevant mutations were found in RHO gene for PRA. The SNP in PDE6B chr3: 91763017 (G/A) in Spitz-only breed, and PDE6A chr4: 5912574 (T/C) and PDC chr7: 19511750 (T/A) were associated with PRA in the breeds of dog studied. Our results show that PRA is genetically heterogeneous and is caused by multiple, distinct mutations.
ISSN:0011-3891
DOI:10.18520/cs/v111/i10/1640-1648