Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.7/318
Título: Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development
Autor: Barresi, Sabina
Tomaselli, Sara
Athanasiadis, Alekos
Galeano, Federica
Locatelli, Franco
Bertini, Enrico
Zanni, Ginevra
Gallo, Angela
Palavras-chave: RNA editing
Brain Development
Data: 17-Mar-2014
Editora: PLOS
Citação: Barresi 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.0091351
Resumo: Oligophrenin-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.
Peer review: yes
URI: http://hdl.handle.net/10400.7/318
DOI: 10.1371/journal.pone.0091351
Versão do Editor: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091351
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