Barresi, SabinaTomaselli, SaraAthanasiadis, AlekosGaleano, FedericaLocatelli, FrancoBertini, EnricoZanni, GinevraGallo, Angela2015-09-232015-09-232014-03-17Barresi 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.0091351http://hdl.handle.net/10400.7/318Oligophrenin-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.engRNA editingBrain Developmentjournal article10.1371/journal.pone.009135110.1371/journal.pone.0091351