Abstract:
:Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, and the exact causal mechanism is unknown. Dysregulated allele-specific expression (ASE) has been identified in persons with ASD; however, a comprehensive analysis of ASE has not been conducted in a family quartet with ASD. To fill this gap, we analyzed ASE using genomic DNA from parent and offspring and RNA from offspring's postmortem prefrontal cortex (PFC); one of the two offspring had been diagnosed with ASD. DNA- and RNA-sequencing revealed distinct ASE patterns from the PFC of both offspring. However, only the PFC of the offspring with ASD exhibited a mono-to-biallelic switch for LRP2BP and ZNF407. We also identified a novel site of RNA-editing in KMT2C in addition to new monoallelically-expressed genes and miRNAs. Our results demonstrate the prevalence of ASE in human PFC and ASE abnormalities in the PFC of a person with ASD. Taken together, these findings may provide mechanistic insights into the pathogenesis of ASD.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Lin CY,Chang KW,Lin CY,Wu JY,Coon H,Huang PH,Ho HN,Akbarian S,Gau SS,Huang HSdoi
10.1038/s41598-018-22753-4subject
Has Abstractpub_date
2018-03-09 00:00:00pages
4277issue
1issn
2045-2322pii
10.1038/s41598-018-22753-4journal_volume
8pub_type
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