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Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development

2014-03-17Journal article Open access
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dc.contributor.authorBarresi, Sabina
dc.contributor.authorTomaselli, Sara
dc.contributor.authorAthanasiadis, Alekos
dc.contributor.authorGaleano, Federica
dc.contributor.authorLocatelli, Franco
dc.contributor.authorBertini, Enrico
dc.contributor.authorZanni, Ginevra
dc.contributor.authorGallo, Angela
dc.date.accessioned2015-09-23T17:01:00Z
dc.date.available2015-09-23T17:01:00Z
dc.date.issued2014-03-17
dc.description.abstractOligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar hypoplasia. ADAR enzymes are responsible for A-to-I RNA editing, an essential post-transcriptional RNA modification contributing to transcriptome and proteome diversification. Specifically, ADAR2 activity is essential for brain development and function. Herein, we show that the OPHN1 transcript undergoes post-transcriptional modifications such as A-to-I RNA editing and alternative splicing in human brain and other tissues. We found that OPHN1 editing is detectable already at the 18th week of gestation in human brain with a boost of editing at weeks 20 to 33, concomitantly with OPHN1 expression increase and the appearance of a novel OPHN1 splicing isoform. Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development.pt_PT
dc.description.sponsorshipAIRC (Associazione Italiana Ricerca sul cancro).pt_PT
dc.identifier10.1371/journal.pone.0091351
dc.identifier.citationBarresi S, Tomaselli S, Athanasiadis A, Galeano F, Locatelli F, et al. (2014) Oligophrenin-1 (OPHN1) , a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development. PLoS ONE 9(3): e91351. doi:10.1371/journal.pone.0091351pt_PT
dc.identifier.doi10.1371/journal.pone.0091351
dc.identifier.doi10.1371/journal.pone.0091351
dc.identifier.urihttp://hdl.handle.net/10400.7/318
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherPLOSpt_PT
dc.relation3202pt_PT
dc.relation.publisherversionhttp://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091351pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectRNA editingpt_PT
dc.subjectBrain Developmentpt_PT
dc.titleOligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain developmentpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage12pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titlePLOS Onept_PT
oaire.citation.volume9pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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