Open AccessDeletion of prominin-1 in mice results in disrupted photoreceptor outer segment protein homeostasis
Author(s) -
Yushu Xiao,
Jian Liang,
Min Gao,
Junran Sun,
Yang Liu,
Jieqiong Chen,
Xiaohuan Zhao,
Yimin Wang,
Yuhong Chen,
Yuwei Wang,
Xiaoling Wan,
Xueting Luo,
Xiaodong Sun
Publication year - 2021
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2021.09.07
Subject(s) - outer nuclear layer , retinal degeneration , degeneration (medical) , photoreceptor cell , retina , phenotype , microbiology and biotechnology , immunohistochemistry , biology , knockout mouse , pathology , medicine , genetics , neuroscience , gene
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.