Dark noise and retinal degeneration from D190N-rhodopsin

This is the authors' abstract. We don't add key points for this paper.

Significance Rhodopsin mutations account for ∼30% of autosomal-dominant retinitis pigmentosa cases. While dozens of distinct mutations have been identified, the reported detriments that they cause in cell culture are not necessarily all consistent across studies and have often not been evaluated in animal models. Even when an animal model is available, it is typically not straightforward to isolate mutant-rhodopsin signals from related endogenous-rhodopsin signals. Here, we introduce an approach employing a largely “functionally silenced” endogenous rhodopsin in rods as background for isolating activity due to D190N-rhodopsin (D190N-Rho). We conclude that, despite D190N-Rho’s elevated molecular rate constant of spontaneous activation, it does not increase the overall cellular dark noise of the rod, thus excluding its increased noise as the reason for disease.