The role of primary cilia in the development and disease of the retina

被引：105

作者：

Wheway, Gabrielle ^{[1
]}

Parry, David A. ^{[2
]}

Johnson, Colin A. ^{[1
]}

机构：

[1] Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England

[2] Univ Leeds, Leeds Inst Mol Med, Genet Sect, Leeds, W Yorkshire, England

来源：

ORGANOGENESIS | 2014年 / 10卷 / 01期

关键词：

photoreceptor development; inherted retinal conditions; intraflagellar transport; primary cilia; retina; ciliopathy; BARDET-BIEDL-SYNDROME; INTRAFLAGELLAR TRANSPORT PROTEIN; PIGMENTOSA GTPASE REGULATOR; LEBER CONGENITAL AMAUROSIS; BASAL BODY PROTEIN; PHOTORECEPTOR CONNECTING CILIUM; OUTER SEGMENT DEVELOPMENT; CHAPERONIN-LIKE PROTEIN; USHER 1B SYNDROME; JOUBERT-SYNDROME;

D O I：

10.4161/org.26710

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The normal development and function of photoreceptors is essential for eye health and visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor development and function are associated with a suite of inherited retinal dystrophies, often as part of complex multi-organ syndromic conditions. In this review, we focus on the role of the photoreceptor outer segment, a highly modified and specialized primary cilium, in retinal health and disease. We discuss the many defects in the structure and function of the photoreceptor primary cilium that can cause a class of inherited conditions known as ciliopathies, often characterized by retinal dystrophy and degeneration, and highlight the recent insights into disease mechanisms.

引用

页码：69 / 85

页数：17

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