Deletion of prominin-1 in mice results in disrupted photoreceptor outer segment protein homeostasis
Authors:   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Xiao Yu-Shu , Gao Min ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Sun Jun-Ran ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Liu Yang ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Chen Jie-Qiong ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Zhao Xiao-Huan ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Wang Yi-Min ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Chen Yu-Hong ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Wang Yu-Wei ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China, Wan Xiao-Ling ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China; Shanghai Key Laboratory of Fundus Diseases, Shanghai 200080, China, Luo Xue-Ting ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China; Shanghai Key Laboratory of Fundus Diseases, Shanghai 200080, China, Sun Xiao-Dong ,   Department of Ophthalmology, Shanghai General Hospital (Shanghai First People&#x2019;s Hospital), Shanghai Jiao Tong University, School of Medicine, Shanghai 200080, China; Shanghai Key Laboratory of Fundus Diseases, Shanghai 200080, China; Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai 200080, China; National Clinical Research Center for Ophthalmic Diseases, Shanghai 200080, China
Published: August 2021

AIM: To illustrate the underlying mechanism how prominin-1 (also known as Prom1) mutation contribute to progressive photoreceptor degeneration.
METHODS: A CRISPR-mediated Prom1 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: Prom1 deprivation causes progressive photoreceptor degeneration. Prom1 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 Prom1 mutation.