Active and inactive pathways in the kinetic mechanism of the G51V retinitis pigmentosa mutant photoreaction

G51V视网膜色素变性突变体光反应动力学机制中的活性和非活性通路

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Abstract

Autosomal dominant retinitis pigmentosa is a visual disorder that can result from many different mutations of the rhodopsin gene. In most cases the mutation results in a misfolded rhodopsin protein or a protein that does not bind with the retinal chromophore. Some mutations, however, yield rhodopsins which fold properly and bind the retinal chromophore, yet still result in autosomal dominant retinitis pigmentosa. Here, we investigate the activation mechanism of one such mutation that produces the G51V rhodopsin variant. Human WT and G51V were recombinantly produced and embedded in identical nanodisks. Time-resolved spectra were then measured from the nanosecond to second timescales across the near UV through the visible spectral ranges. From these measurements the activation mechanisms of the two proteins were compared. While studies of the WT protein yielded a mechanism consistent with previous determinations of human rhodopsin, the G51V mechanism involved multiple pathways. These results suggest multiple ways for the protein to fold, some of which are photoactivated while the majority do not activate normally.

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