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果蝇中由显性视紫红质突变引起的视网膜变性。

Retinal degeneration caused by dominant rhodopsin mutations in Drosophila.

作者信息

Kurada P, O'Tousa J E

机构信息

Department of Biological Sciences University of Notre Dame, Indiana 46556, USA.

出版信息

Neuron. 1995 Mar;14(3):571-9. doi: 10.1016/0896-6273(95)90313-5.

Abstract

Dominant mutations of the Drosophila ninaE-encoded rhodopsin are described that reduce the expression of wild-type rhodopsin and cause a slow, age-dependent form of retinal degeneration. A posttranslational event subsequent to the requirement for the ninaA-encoded cyclophilin is disrupted by the dominant mutations. Most of these dominant mutations are missense mutations that affect the physical properties of one of the seven transmembrane domains; another affects the cysteine involved in a disulfide linkage. The results indicate that misfolded or unstable mutant rhodopsin can interfere with maturation of wild-type rhodopsin, and that these cellular conditions may trigger retinal degeneration. In addition, these dominant rhodopsin mutations suppress the rapid degeneration seen in rdgC and norpA flies, indicating that high levels of rhodopsin are required.

摘要

已描述了果蝇ninaE编码的视紫红质的显性突变,这些突变会降低野生型视紫红质的表达,并导致一种缓慢的、与年龄相关的视网膜变性形式。在需要ninaA编码的亲环蛋白之后发生的翻译后事件被显性突变破坏。这些显性突变大多是错义突变,影响七个跨膜结构域之一的物理性质;另一个影响参与二硫键连接的半胱氨酸。结果表明,错误折叠或不稳定的突变视紫红质会干扰野生型视紫红质的成熟,并且这些细胞状况可能引发视网膜变性。此外,这些显性视紫红质突变抑制了rdgC和norpA果蝇中出现的快速变性,表明需要高水平的视紫红质。

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