Constitutively active rhodopsin and retinal disease.
Constitutively active rhodopsin and retinal disease.
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DOI：
10.1016/b978-0-12-417197-8.00001-8
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Park, Paul Shin-Hyun
中科院分区：
文献类型：
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作者：
Park, Paul Shin-Hyun
视紫红质是视网膜杆状光感受器细胞中的光感受器，引发暗视。在黑暗中，视紫红质与发色团11-顺式视网膜结合，将受体锁定在非活性状态。在黑暗中维持无活性视紫红质对视杆光感受器细胞保持高度敏感至关重要。由11-顺式视网膜突变或缺失引起的扰动可导致视紫红质变得组成性活跃，从而导致感光细胞脱敏，在某些情况下，导致视网膜变性。视紫质的组成活性可通过多种机制产生，并可引起多种遗传性视网膜疾病，包括莱伯氏先天性黑朦、先天性夜盲症和视网膜色素变性。本文综述了不同组成活性形式的视紫红质的分子和结构特性，并讨论了不同活性状态构象产生组成活性的可能性。
Rhodopsin is the light receptor in rod photoreceptor cells of the retina that initiates scotopic vision. In the dark, rhodopsin is bound to the chromophore 11-cis retinal, which locks the receptor in an inactive state. The maintenance of an inactive rhodopsin in the dark is critical for rod photoreceptor cells to remain highly sensitive. Perturbations by mutation or absence of 11-cis retinal can cause rhodopsin to become constitutively active, which leads to the desensitization of photoreceptor cells and, in some instances, retinal degeneration. Constitutive activity can arise in rhodopsin by various mechanisms and can cause a variety of inherited retinal diseases including Leber congenital amaurosis, congenital night blindness, and retinitis pigmentosa. In this review, the molecular and structural properties of different constitutively active forms of rhodopsin are overviewed and the possibility that constitutive activity can arise from different active-state conformations is discussed.