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The photoreceptor cilium and its diseases


Bachmann-Gagescu, Ruxandra; Neuhauss, Stephan C F (2019). The photoreceptor cilium and its diseases. Current Opinion in Genetics & Development, 56:22-33.

Abstract

Light sensation occurs in photoreceptor outer segments (OS), which derive from highly specialized primary cilia, based on structural and molecular similarities. Ciliary dysfunction causes ciliopathies, in which retinal degeneration is common. The connecting cilium (CC) is the obligate passage for proteins moving between ciliary and cellular compartment, controlling the correct distribution of proteins on either side of its barrier. While new mechanisms for selective entry of ciliary proteins are being elucidated, active transport out of the OS is increasingly studied. We further discuss other recent advances in the field, such as a role for the CC in docking and fusion of incoming transport vesicles, a newly proposed subcompartmentalization into proximal and distal CC, and mechanisms of OS membrane dynamics paralleling ectosome formation in other cilia.

Abstract

Light sensation occurs in photoreceptor outer segments (OS), which derive from highly specialized primary cilia, based on structural and molecular similarities. Ciliary dysfunction causes ciliopathies, in which retinal degeneration is common. The connecting cilium (CC) is the obligate passage for proteins moving between ciliary and cellular compartment, controlling the correct distribution of proteins on either side of its barrier. While new mechanisms for selective entry of ciliary proteins are being elucidated, active transport out of the OS is increasingly studied. We further discuss other recent advances in the field, such as a role for the CC in docking and fusion of incoming transport vesicles, a newly proposed subcompartmentalization into proximal and distal CC, and mechanisms of OS membrane dynamics paralleling ectosome formation in other cilia.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
07 Faculty of Science > Institute of Molecular Life Sciences
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Life Sciences > Developmental Biology
Language:English
Date:June 2019
Deposited On:23 Jan 2020 16:29
Last Modified:29 Jul 2020 12:31
Publisher:Elsevier
ISSN:0959-437X
OA Status:Hybrid
Publisher DOI:https://doi.org/10.1016/j.gde.2019.05.004
PubMed ID:31260874

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