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

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

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

Show simple item record Aller Mañas, Elena es_ES Sánchez Sánchez, Ana Virginia es_ES Chicote, Javier U. es_ES García-García, Gema es_ES Udaondo, Patricia es_ES Cavallé, Laura es_ES Piquer Gil, Marina es_ES García-España, Antonio es_ES Díaz Llopis, Manuel es_ES Millán Salvador, José María es_ES Mullor Sanjosé, José Luis es_ES 2015-06-19T07:47:45Z 2015-06-19T07:47:45Z 2013 es_ES
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.source PLoS ONE Vol. 8 Issue 9: es_ES
dc.title Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes) es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.identifier.doi 10.1371/journal.pone.0074995 es_ES
dc.identifier.idgrec 095357 es_ES

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