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Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

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Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

dc.contributor.author	Aller Mañas, Elena	es_ES
dc.contributor.author	Sánchez Sánchez, Ana Virginia	es_ES
dc.contributor.author	Chicote, Javier U.	es_ES
dc.contributor.author	García-García, Gema	es_ES
dc.contributor.author	Udaondo, Patricia	es_ES
dc.contributor.author	Cavallé, Laura	es_ES
dc.contributor.author	Piquer Gil, Marina	es_ES
dc.contributor.author	García-España, Antonio	es_ES
dc.contributor.author	Díaz Llopis, Manuel	es_ES
dc.contributor.author	Millán Salvador, José María	es_ES
dc.contributor.author	Mullor Sanjosé, José Luis	es_ES
dc.date.accessioned	2015-06-19T07:47:45Z
dc.date.available	2015-06-19T07:47:45Z
dc.date.issued	2013	es_ES
dc.identifier.citation	PLoS ONE Vol. 8 Issue 9:	es_ES
dc.identifier.uri	http://hdl.handle.net/10550/44506
dc.description.abstract	Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. USH is the most common genetic disorder affecting hearing and vision and is included in a group of hereditary pathologies associated with defects in ciliary function known as ciliopathies. This syndrome is clinically classified into three types: USH1, USH2 and USH3. USH2 accounts for well over one-half of all Usher cases and mutations in the USH2A gene are responsible for the majority of USH2 cases, but also for atypical Usher syndrome and recessive non-syndromic RP. Because medaka fish (Oryzias latypes) is an attractive model organism for genetic-based studies in biomedical research, we investigated the expression and function of the USH2A ortholog in this teleost species. Ol-Ush2a encodes a protein of 5.445 aa codons, containing the same motif arrangement as the human USH2A. Ol-Ush2a is expressed during early stages of medaka fish development and persists into adulthood. Temporal Ol-Ush2a expression analysis using whole mount in situ hybridization (WMISH) on embryos at different embryonic stages showed restricted expression to otoliths and retina, suggesting that Ol-Ush2a might play a conserved role in the development and/or maintenance of retinal photoreceptors and cochlear hair cells. Knockdown of Ol-Ush2a in medaka fish caused embryonic developmental defects (small eyes and heads, otolith malformations and shortened bodies with curved tails) resulting in late embryo lethality. These embryonic defects, observed in our study and in other ciliary disorders, are associated with defective cell movement specifically implicated in left-right (LR) axis determination and planar cell polarity (PCP).	es_ES
dc.title	Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)	es_ES
dc.type	journal article	es_ES
dc.identifier.doi	10.1371/journal.pone.0074995	es_ES
dc.identifier.idgrec	095357	es_ES