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Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A

Sci Rep. 2022-12; 
Dell'Orco D, Dal Cortivo G.
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Gene Synthesis Synthetic genes (Genscript) corresponding to the cDNA of human GCAP1 (Uniprot: P43080) and GCAP2 (Uniprot: Q9UMX6) were cloned into pET-11a(+) vectors using NdeI and NheI as restriction site. Get A Quote
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Abstract

Missense mutations in the GUCA1A gene encoding guanylate cyclase-activating protein 1 (GCAP1) are associated with autosomal dominant cone/cone-rod (CORD) dystrophies. The nature of the inheritance pattern implies that a pool of normal GCAP proteins is present in photoreceptors together with the mutated variant. To assess whether human GCAP1 and GCAP2 may similarly regulate the activity of the retinal membrane guanylate cyclase GC-1 (GC-E) in the presence of the recently discovered E111V-GCAP1 CORD-variant, we combined biochemical and in silico assays. Surprisingly, human GCAP2 does not activate GC1 over the physiological range of Ca2+ whereas wild-type GCAP1 significantly attenuates the dysregulation of GC1 in... More

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