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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.小鼠cpfl1突变体与人类全色盲的同源遗传基础与PDE6C基因突变有关。
Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3.
2
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.AIPL1是一种与儿童失明相关的蛋白质，它与视杆磷酸二酯酶（PDE6）的α亚基相互作用，对其正确组装至关重要。
J Biol Chem. 2009 Nov 6;284(45):30853-61. doi: 10.1074/jbc.M109.036780. Epub 2009 Sep 16.
3
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.用靶向视杆细胞和视锥细胞的启动子进行基因治疗可挽救 AIPL1 突变引起的视网膜变性。
Gene Ther. 2010 Jan;17(1):117-31. doi: 10.1038/gt.2009.104. Epub 2009 Aug 27.
4
High cGMP synthetic activity in carp cones.鲤鱼视锥细胞中高的环鸟苷酸合成活性。
Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11788-93. doi: 10.1073/pnas.0812781106. Epub 2009 Jun 25.
5
Purification and partial characterization of a lutein-binding protein from human retina.人视网膜中叶黄素结合蛋白的纯化及部分特性分析
Biochemistry. 2009 Jun 9;48(22):4798-807. doi: 10.1021/bi9004478.
6
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.针对由AIPL1缺陷引起的视网膜色素变性和莱伯先天性黑蒙的基因治疗：使用AAV2/2和AAV2/8载体有效拯救部分和完全Aipl1缺陷的小鼠模型。
Hum Mol Genet. 2009 Jun 15;18(12):2099-114. doi: 10.1093/hmg/ddp133. Epub 2009 Mar 19.
7
Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa.在视网膜色素变性显性模型中，RdCVF蛋白对功能性视锥细胞的挽救作用
Mol Ther. 2009 May;17(5):787-95. doi: 10.1038/mt.2009.28. Epub 2009 Mar 10.
8
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.SPATA7基因的突变会导致莱伯先天性黑矇和青少年视网膜色素变性。
Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5.
9
Remodeling of cone photoreceptor cells after rod degeneration in rd mice.视网膜变性小鼠杆状细胞退化后视锥光感受器细胞的重塑。
Exp Eye Res. 2009 Mar;88(3):589-99. doi: 10.1016/j.exer.2008.11.022. Epub 2008 Dec 6.
10
Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa.在视网膜色素变性小鼠模型中，刺激胰岛素/mTOR信号通路可延缓视锥细胞死亡。
Nat Neurosci. 2009 Jan;12(1):44-52. doi: 10.1038/nn.2234. Epub 2008 Dec 7.

Leber 先天性黑矇蛋白 AIPL1 对于视锥细胞的存活和功能至关重要。

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.

机构信息

Center for Neuroscience, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, West Virginia 26505, USA.

出版信息

Hum Mol Genet. 2010 Mar 15;19(6):1076-87. doi: 10.1093/hmg/ddp571. Epub 2009 Dec 30.

DOI:10.1093/hmg/ddp571
PMID:20042464
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2830831/
Abstract

Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon receptor interacting protein like-1 (Aipl1) is a severe form of childhood blindness. At 4 weeks of age, a mouse model of LCA lacking AIPL1 exhibits complete degeneration of both rod and cone photoreceptors. Rod cell death occurs due to rapid destabilization of rod phosphodiesterase, an enzyme essential for rod survival and function. However, little is understood regarding the role of AIPL1 in cone photoreceptors. Cone degeneration observed in the absence of AIPL1 could be due to an indirect 'bystander effect' caused by rod photoreceptor death or a direct role for AIPL1 in cones. To understand the importance of AIPL1 in cone photoreceptor cells, we transgenically expressed hAIPL1 exclusively in the rod photoreceptors of the Aipl1(-/-) mouse. Transgenic expression of hAIPL1 restored rod morphology and the rod-derived electroretinogram response, but cone photoreceptors were non-functional in the absence of AIPL1. In addition, the cone photoreceptors degenerate, but at a slower rate compared with Aipl1(-/-) mice. This degeneration is linked to the highly reduced levels of cone PDE6 observed in the hAIPL1 transgenic mice. Our studies demonstrate that AIPL1 is needed for the proper functioning and survival of cone photoreceptors. However, rod photoreceptors also provide support that partially preserves cone photoreceptors from rapid death in the absence of AIPL1.

摘要

Leber 先天性黑蒙（LCA）是由 Aryl hydrocarbon receptor interacting protein like-1（Aipl1）突变引起的一种严重的儿童盲症。在 4 周龄时，缺乏 AIPL1 的 LCA 小鼠模型表现出视杆和视锥感光细胞的完全退化。视杆细胞死亡是由于视杆磷酸二酯酶的迅速不稳定，该酶对视杆存活和功能至关重要。然而，对于 AIPL1 在视锥感光细胞中的作用知之甚少。在缺乏 AIPL1 的情况下观察到的视锥退化可能是由于视杆感光细胞死亡引起的间接“旁观者效应”，或者 AIPL1 对视锥的直接作用。为了了解 AIPL1 在视锥感光细胞中的重要性，我们在 Aipl1（-/-）小鼠的视杆感光细胞中转基因表达 hAIPL1。hAIPL1 的转基因表达恢复了视杆形态和视杆衍生的视网膜电图反应，但在缺乏 AIPL1 的情况下视锥感光细胞无功能。此外，视锥感光细胞退化，但与 Aipl1（-/-）小鼠相比速度较慢。这种退化与 hAIPL1 转基因小鼠中观察到的 cone PDE6 水平显著降低有关。我们的研究表明，AIPL1 是视锥感光细胞正常功能和存活所必需的。然而，视杆感光细胞也提供了支持，部分保护视锥感光细胞免受缺乏 AIPL1 时的快速死亡。