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Int J Ophthalmol. 2021 Sep 18;14(9):1334-1344. doi: 10.18240/ijo.2021.09.07. eCollection 2021.
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A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.一种小鼠RP1错义突变导致蛋白质定位错误和缓慢进行性光感受器变性。
Am J Pathol. 2014 Oct;184(10):2721-9. doi: 10.1016/j.ajpath.2014.06.010. Epub 2014 Aug 1.

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Integrated Metabolomics and Transcriptomics Reveal Metabolic Patterns in Retina of STZ-Induced Diabetic Retinopathy Mouse Model.整合代谢组学和转录组学揭示链脲佐菌素诱导的糖尿病视网膜病变小鼠模型视网膜中的代谢模式
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本文引用的文献

1
The stem cell marker promotes axon regeneration by down-regulating cholesterol synthesis via Smad signaling.干细胞标志物 通过 Smad 信号通路下调胆固醇合成来促进轴突再生。
Proc Natl Acad Sci U S A. 2020 Jul 7;117(27):15955-15966. doi: 10.1073/pnas.1920829117. Epub 2020 Jun 17.
2
Prominins control ciliary length throughout the animal kingdom: New lessons from human prominin-1 and zebrafish prominin-3.遍动物界调控纤毛长度的主导蛋白：从人类 prominin-1 和斑马鱼 prominin-3 得到的新启示。
J Biol Chem. 2020 May 1;295(18):6007-6022. doi: 10.1074/jbc.RA119.011253. Epub 2020 Mar 22.
3
The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.中心体蛋白 290 的肌球蛋白尾部同源结构域对于光感受器内外节之间的蛋白质限制是必需的。
J Biol Chem. 2019 Dec 13;294(50):19119-19136. doi: 10.1074/jbc.RA119.009712. Epub 2019 Nov 6.
4
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.敲除斑马鱼中的 lca5 会因外节蛋白转运受损而导致 Cone-rod 营养不良。
Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2694-2705. doi: 10.1016/j.bbadis.2019.07.009. Epub 2019 Jul 23.
5
Prominin-1 controls stem cell activation by orchestrating ciliary dynamics.Prominin-1 通过协调纤毛动态控制干细胞激活。
EMBO J. 2019 Jan 15;38(2). doi: 10.15252/embj.201899845. Epub 2018 Dec 6.
6
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1).斯塔加特病4型（ProgStar-4）研究进展：设计与基线特征（ProgStar-4报告第1号）
Ophthalmic Res. 2018;60(3):185-194. doi: 10.1159/000491791. Epub 2018 Aug 15.
7
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.全外显子组测序揭示 HKDC1 是与常染色体隐性遗传视网膜色素变性相关的候选基因。
Hum Mol Genet. 2018 Dec 1;27(23):4157-4168. doi: 10.1093/hmg/ddy281.
8
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Prph2 和 Rom1 的寡聚化对于光感受器外节的形成是必不可少的。
Hum Mol Genet. 2018 Oct 15;27(20):3507-3518. doi: 10.1093/hmg/ddy240.
9
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.在波兰视锥-视杆营养不良患者中通过下一代测序鉴定出的新型变异体。
Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.
10
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.IfT172 条件性敲除小鼠表现出快速的视网膜变性和蛋白运输缺陷。
Hum Mol Genet. 2018 Jun 1;27(11):2012-2024. doi: 10.1093/hmg/ddy109.

小鼠体内某物质的缺失会导致光感受器外段蛋白质稳态被破坏。 （注：原文中“Deletion of in mice”部分有缺失信息，这里是根据完整语义推测补充后的翻译）

Deletion of in mice results in disrupted photoreceptor outer segment protein homeostasis.

作者信息

Xiao Yu-Shu, Liang Jian, Gao Min, Sun Jun-Ran, Liu Yang, Chen Jie-Qiong, Zhao Xiao-Huan, Wang Yi-Min, Chen Yu-Hong, Wang Yu-Wei, Wan Xiao-Ling, Luo Xue-Ting, Sun Xiao-Dong

机构信息

Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China.

Shanghai Key Laboratory of Fundus Diseases, Shanghai 200080, China.

出版信息

Int J Ophthalmol. 2021 Sep 18;14(9):1334-1344. doi: 10.18240/ijo.2021.09.07. eCollection 2021.

DOI:10.18240/ijo.2021.09.07
PMID:34540608
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8403851/
Abstract

AIM

To illustrate the underlying mechanism how (also known as ) mutation contribute to progressive photoreceptor degeneration.

METHODS

A CRISPR-mediated knockout (Prom1-KO) mice model in the C57BL/6 was generated and the photoreceptor degeneration phenotypes by means of structural and functional tests were demonstrated. Immunohistochemistry and immunoblot analysis were performed to reveal the localization and quantity of related outer segment (OS) proteins.

RESULTS

The Prom1-KO mice developed the photoreceptor degeneration phenotype including the decreased outer nuclear layer (ONL) thickness and compromised electroretinogram amplitude. Immunohistochemistry analysis revealed impaired trafficking of photoreceptor OS proteins. Immunoblot data demonstrated decreased photoreceptor OS proteins.

CONCLUSION

deprivation causes progressive photoreceptor degeneration. is essential for maintaining normal trafficking and normal quantity of photoreceptor OS proteins. The new light is shed on the pathogenic mechanism underlying photoreceptor degeneration caused by mutation.

摘要

目的

阐明（也称为）突变导致进行性光感受器退化的潜在机制。

方法

构建了C57BL/6背景下CRISPR介导的敲除（Prom1-KO）小鼠模型，并通过结构和功能测试证实了光感受器退化表型。进行免疫组织化学和免疫印迹分析以揭示相关外段（OS）蛋白的定位和数量。

结果

Prom1-KO小鼠出现光感受器退化表型，包括外核层（ONL）厚度降低和视网膜电图振幅受损。免疫组织化学分析显示光感受器OS蛋白的运输受损。免疫印迹数据表明光感受器OS蛋白减少。

结论

缺失导致进行性光感受器退化。对于维持光感受器OS蛋白的正常运输和正常数量至关重要。为突变引起的光感受器退化的致病机制提供了新的线索。