Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice

NWIPB OpenIR

	Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice
	Li, Xiao; Jiang, Zhilin; Su, Yujing; Wang, Kaifang; Jiang, Xiaoyan; Sun, Kuanxiang; Yang, Yeming; Zhou, Yu; Zhu, Xianjun; Zhang, Lin
	2023
发表期刊	FEBS JOURNAL
卷号	290 期号:17 页码:4356
摘要	The endoplasmic reticulum membrane protein complex (EMC) plays a critical role in the synthesis of multipass membrane proteins. Genetic studies indicated that mutations in EMC1 gene were associated with retinal degeneration diseases; however, the role of EMC1 in photoreceptor has not been confirmed. Here, we show that Emc1 ablation in the photoreceptor cells of mice recapitulated the retinitis pigmentosa phenotypes, including an attenuated scotopic electroretinogram response and the progressive degeneration of rod cells and cone cells. Histopathological examination of tissues from rod-specific Emc1 knockout mice revealed mislocalized rhodopsin and irregularly arranged cone cells at the age of 2 months. Further immunoblotting analysis revealed decreased levels of membrane proteins and endoplasmic reticulum chaperones in 1-month-old rod-specific Emc1 knockout mice retinae, and this led us to speculate that the loss of membrane proteins is the main cause of the degeneration of photoreceptors. EMC1 most likely regulated the membrane protein levels at an earlier step in the biosynthetic process before the proteins translocated into the endoplasmic reticulum. The present study demonstrates the essential roles of Emc1 in photoreceptor cells, and reveals the mechanism through which EMC1 mutations are linked to retinitis pigmentosa.
收录类别	SCIE
文献类型	期刊论文
条目标识符	http://210.75.249.4/handle/363003/61644
专题	中国科学院西北高原生物研究所
推荐引用方式 GB/T 7714	Li, Xiao,Jiang, Zhilin,Su, Yujing,et al. Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice[J]. FEBS JOURNAL,2023,290(17):4356.
APA	Li, Xiao.,Jiang, Zhilin.,Su, Yujing.,Wang, Kaifang.,Jiang, Xiaoyan.,...&Zhang, Lin.(2023).Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.FEBS JOURNAL,290(17),4356.
MLA	Li, Xiao,et al."Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice".FEBS JOURNAL 290.17(2023):4356.