Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8795028 | Progress in Retinal and Eye Research | 2018 | 97 Pages |
Abstract
Here we integrate the available information on the genetics, biochemistry and phenotype that is related to GUCY2D mutations. These data clearly show that mutation type (missense versus null) and localization (dimerization domain versus other protein domains) are correlated with the pattern of inheritance, impact on enzymatic function and retinal phenotype. Such clear correlation is unique to GUCY2D while mutations in many other retinal disease genes show variable phenotypes and lack of available biochemical assays.
Keywords
Retinitis pigmentosaIUPHARJuxtamembrane domainGCAPguanylate cyclaseIRDCSNBBSPRPEAAVCRDcGMPCCDCNGGTPNGSERGPDEECDcyclic GMPLeber congenital amaurosisAutosomal DominantAutosomal recessiveLCAelectroretinographyretinal pigment epitheliumouter segmentinner segmentinherited retinal diseaseretinal diseasesNext generation sequencingmutationextracellular domaindimerization domaintransmembrane domainLeader sequenceCone-rod dystrophyCone dystrophyPhotoreceptorPhosphodiesterasescyclic guanosine monophosphateknock-outcyclic nucleotide-gatedGenotype-phenotype correlationAdeno-associated virusCongenital stationary night blindnessguanosine 5′-triphosphate
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Authors
Dror Sharon, Hanna Wimberg, Yael Kinarty, Karl-Wilhelm Koch,