Autoren:	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
Titel:	Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium
Online-Publikationsdatum:	2-Nov-2021
Erscheinungsdatum:	2021
Sprache des Dokuments:	Englisch
Zusammenfassung/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-Sachgruppe:	570 Biowissenschaften 570 Life sciences
Veröffentlichende Institution:	Johannes Gutenberg-Universität Mainz
Organisationseinheit:	FB 10 Biologie
Veröffentlichungsort:	Mainz
ROR:	https://ror.org/023b0x485
DOI:	http://doi.org/10.25358/openscience-6424
Version:	Published version
Publikationstyp:	Zeitschriftenaufsatz
Nutzungsrechte:	CC BY
Informationen zu den Nutzungsrechten:	https://creativecommons.org/licenses/by/4.0/
Zeitschrift:	Frontiers in cell and developmental biology 9
Seitenzahl oder Artikelnummer:	607121
Verlag:	Frontiers Media
Verlagsort:	Lausanne
Erscheinungsdatum:	2021
ISSN:	2296-634X
URL der Originalveröffentlichung:	https://doi.org/10.3389/fcell.2021.607121
DOI der Originalveröffentlichung:	10.3389/fcell.2021.607121
Enthalten in den Sammlungen:	JGU-Publikationen