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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 18 th  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.

plos one

Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development