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Widespread RNA editing dysregulation in brains from autistic individuals.

  • Author(s): Tran, Stephen S;
  • Jun, Hyun-Ik;
  • Bahn, Jae Hoon;
  • Azghadi, Adel;
  • Ramaswami, Gokul;
  • Van Nostrand, Eric L;
  • Nguyen, Thai B;
  • Hsiao, Yun-Hua E;
  • Lee, Changhoon;
  • Pratt, Gabriel A;
  • Martínez-Cerdeño, Verónica;
  • Hagerman, Randi J;
  • Yeo, Gene W;
  • Geschwind, Daniel H;
  • Xiao, Xinshu
  • et al.

Transcriptomic analyses of postmortem brains have begun to elucidate molecular abnormalities in autism spectrum disorder (ASD). However, a crucial pathway involved in synaptic development, RNA editing, has not yet been studied on a genome-wide scale. Here we profiled global patterns of adenosine-to-inosine (A-to-I) editing in a large cohort of postmortem brains of people with ASD. We observed a global bias for hypoediting in ASD brains, which was shared across brain regions and involved many synaptic genes. We show that the Fragile X proteins FMRP and FXR1P interact with RNA-editing enzymes (ADAR proteins) and modulate A-to-I editing. Furthermore, we observed convergent patterns of RNA-editing alterations in ASD and Fragile X syndrome, establishing this as a molecular link between these related diseases. Our findings, which are corroborated across multiple data sets, including dup15q (genomic duplication of 15q11.2-13.1) cases associated with intellectual disability, highlight RNA-editing dysregulation in ASD and reveal new mechanisms underlying this disorder.

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