RPGRIP1 and Cone–Rod Dystrophy in Dogs
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype–phenotype discordance observed in dogs with the RPGRIP1 mutation.
KeywordsRPGRIP1 Polymorphism Cone–rod dystrophy Protein network Photoreceptor cilia
This study was supported by Morris Animal Foundation, EY-06855, 17549, Foundation Fighting Blindness Center Grant, and Van Sloun Fund
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