Widespread RNA editing dysregulation in brains from autistic individuals

SS Tran, HI Jun, JH Bahn, A Azghadi… - Nature …, 2019 - nature.com
SS Tran, HI Jun, JH Bahn, A Azghadi, G Ramaswami, EL Van Nostrand, TB Nguyen
Nature neuroscience, 2019nature.com
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 …
Abstract
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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