Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, 10065, USA.
Institute of Computational Biomedicine, Weill Cornell Medical College, New York, NY, 10065, USA.
Sci Rep. 2021 May 18;11(1):10536. doi: 10.1038/s41598-021-90039-3.
Mutations in the G protein-coupled receptor (GPCR) rhodopsin are a common cause of autosomal dominant retinitis pigmentosa, a blinding disease. Rhodopsin self-associates in the membrane, and the purified monomeric apo-protein opsin dimerizes in vitro as it transitions from detergent micelles to reconstitute into a lipid bilayer. We previously reported that the retinitis pigmentosa-linked F220C opsin mutant fails to dimerize in vitro, reconstituting as a monomer. Using fluorescence-based assays and molecular dynamics simulations we now report that whereas wild-type and F220C opsin display distinct dimerization propensities in vitro as previously shown, they both dimerize in the plasma membrane of HEK293 cells. Unexpectedly, molecular dynamics simulations show that F220C opsin forms an energetically favored dimer in the membrane when compared with the wild-type protein. The conformation of the F220C dimer is unique, with transmembrane helices 5 and 6 splayed apart, promoting widening of the intracellular vestibule of each protomer and influx of water into the protein interior. FRET experiments with SNAP-tagged wild-type and F220C opsin expressed in HEK293 cells are consistent with this conformational difference. We speculate that the unusual mode of dimerization of F220C opsin in the membrane may have physiological consequences.
G 蛋白偶联受体(GPCR)视紫红质突变是常染色体显性遗传视网膜色素变性的一个常见原因,这是一种致盲性疾病。视紫红质在膜中自缔合,纯化的单体脱辅基蛋白视蛋白在从去污剂胶束过渡到重新形成脂质双层的过程中在体外二聚化。我们之前报道过,与视网膜色素变性相关的 F220C 视蛋白突变体在体外不能二聚化,而是作为单体重新构成。我们现在使用荧光基测定法和分子动力学模拟报告说,尽管野生型和 F220C 视蛋白如前所述在体外表现出不同的二聚化倾向,但它们都在 HEK293 细胞的质膜中二聚化。出乎意料的是,分子动力学模拟表明,与野生型蛋白相比,F220C 视蛋白在膜中形成一种能量上有利的二聚体。F220C 二聚体的构象是独特的,跨膜螺旋 5 和 6 张开,促进每个原蛋白的细胞内前庭变宽,并使水流入蛋白质内部。与在 HEK293 细胞中表达的 SNAP 标记的野生型和 F220C 视蛋白的 FRET 实验一致,与这种构象差异一致。我们推测,F220C 视蛋白在膜中二聚化的异常模式可能具有生理后果。