Department of Ophthalmology, Gavin Herbert Eye Institute, University of California, Irvine, CA 92697.
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, Saint Louis, MO 63110.
eNeuro. 2023 Mar 7;10(3). doi: 10.1523/ENEURO.0330-22.2023. Print 2023 Mar.
Rhodopsin is the critical receptor molecule which enables vertebrate rod photoreceptor cells to detect a single photon of light and initiate a cascade of molecular events leading to visual perception. Recently, it has been suggested that the F45L mutation in the transmembrane helix of rhodopsin disrupts its dimerization To determine whether this mutation of rhodopsin affects its signaling properties , we generated knock-in mice expressing the rhodopsin F45L mutant. We then examined the function of rods in the mutant mice versus wild-type controls, using electroretinography and transretinal and single cell suction recordings, combined with morphologic analysis and spectrophotometry. Although we did not evaluate the effect of the F45L mutation on the state of dimerization of the rhodopsin , our results revealed that F45L-mutant mice exhibit normal retinal morphology, normal rod responses as measured both and , and normal rod dark adaptation. We conclude that the F45L mutation does not affect the signaling properties of rhodopsin in its natural setting.
视紫红质是关键的受体分子，使脊椎动物杆状光感受器细胞能够检测到单个光量子，并引发一系列分子事件，从而产生视觉感知。最近，有人提出视紫红质跨膜螺旋中的 F45L 突变会破坏其二聚化。为了确定这种视紫红质突变是否会影响其信号转导特性，我们生成了表达视紫红质 F45L 突变体的基因敲入小鼠。然后，我们使用视网膜电图和转视网膜及单细胞抽吸记录，结合形态分析和分光光度法，研究了突变体小鼠与野生型对照小鼠的 rods 的功能。虽然我们没有评估 F45L 突变对视紫红质二聚化状态的影响，但我们的结果表明，F45L 突变小鼠表现出正常的视网膜形态、正常的 rod 反应（无论是 还是 ），以及正常的 rod 暗适应。我们得出结论，F45L 突变不会影响视紫红质在其自然环境中的信号转导特性。
