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Authors: Schneider, Sandra
De Cegli, Rossella
Nagarajan, Jayapriya
Kretschmer, Viola
Matthiessen, Peter Andreas
Intartaglia, Daniela
Hotaling, Nathan
Marius, Ueffing
Boldt, Karsten
Conte, Ivan
May-Simera, Helen Louise
Title: Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium
Online publication date: 2-Nov-2021
Language: english
Abstract: Primary cilia are sensory organelles vital for developmental and physiological processes. Their dysfunction causes a range of phenotypes including retinopathies. Although primary cilia have been described in the retinal pigment epithelium (RPE), little is known about their contribution to biological processes within this tissue. Ciliary proteins are increasingly being identified in non-ciliary locations and might carry out additional functions, disruption of which possibly contributes to pathology. The RPE is essential for maintaining photoreceptor cells and visual function. We demonstrate that upon loss of Bbs8, predominantly thought to be a ciliary gene, the RPE shows changes in gene and protein expression initially involved in signaling pathways and developmental processes, and at a later time point RPE homeostasis and function. Differentially regulated molecules affecting the cytoskeleton and cellular adhesion, led to defective cellular polarization and morphology associated with a possible epithelial-to-mesenchymal transition (EMT)-like phenotype. Our data highlights the benefit of combinatorial “omics” approaches with in vivo data for investigating the function of ciliopathy proteins. It also emphasizes the importance of ciliary proteins in the RPE and their contribution to visual disorders, which must be considered when designing treatment strategies for retinal degeneration.
DDC: 570 Biowissenschaften
570 Life sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 10 Biologie
Place: Mainz
Version: Published version
Publication type: Zeitschriftenaufsatz
License: CC BY
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Journal: Frontiers in cell and developmental biology
Pages or article number: 607121
Publisher: Frontiers Media
Publisher place: Lausanne
Issue date: 2021
ISSN: 2296-634X
Publisher URL:
Publisher DOI: 10.3389/fcell.2021.607121
Appears in collections:JGU-Publikationen

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