期刊
NATURE NEUROSCIENCE
卷 22, 期 1, 页码 25-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41593-018-0287-x
关键词
-
资金
- NIH [HG009417, HG006264, HG004659, HG007005, MH107367, T32HG002536, HG009530, MH094681, HD 036071]
- UCLA Eureka Scholarship
- Damon Runyon Cancer Research Foundation [DRG-2172-13]
- National Science Foundation Graduate Research Fellowship
- NIH fellowship [1F32MH114620]
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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