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Title: CERKL Knockdown Causes Retinal Degeneration in Zebrafish
Author: Riera Gibernau, Marina
Burguera Hernández, Demian
Garcia Fernández, Jordi
Gonzàlez-Duarte, Roser
Keywords: Malalties de la retina
Peix zebra
Genètica molecular
Mutació (Biologia)
Models animals en la investigació
Retinal diseases
Zebra danio
Molecular genetics
Mutation (Biology)
Animal models in research
Issue Date: 9-May-2013
Publisher: Public Library of Science (PLoS)
Abstract: The human CERKL gene is responsible for common and severe forms of retinal dystrophies. Despite intense in vitro studies at the molecular and cellular level and in vivo analyses of the retina of murine knockout models, CERKL function remains unknown. In this study, we aimed to approach the developmental and functional features of cerkl in Danio rerio within an Evo-Devo framework. We show that gene expression increases from early developmental stages until the formation of the retina in the optic cup. Unlike the high mRNA-CERKL isoform multiplicity shown in mammals, the moderate transcriptional complexity in fish facilitates phenotypic studies derived from gene silencing. Moreover, of relevance to pathogenicity, teleost CERKL shares the two main human protein isoforms. Morpholino injection has been used to generate a cerkl knockdown zebrafish model. The morphant phenotype results in abnormal eye development with lamination defects, failure to develop photoreceptor outer segments, increased apoptosis of retinal cells and small eyes. Our data support that zebrafish Cerkl does not interfere with proliferation and neural differentiation during early developmental stages but is relevant for survival and protection of the retinal tissue. Overall, we propose that this zebrafish model is a powerful tool to unveil CERKL contribution to human retinal degeneration
Note: Reproducció del document publicat a:
It is part of: PLoS One, 2013, vol. 8, num. 5, p. e64048
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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