[P2-1~135] Poster Presentation 2

[P2-8] Analysis of Allelic-specific Expression in a Family with Autism Spectrum Disorder on a Genome-wide Scale

^○Chun-Yen LIN^{1, 2} (1.Graduate Institute of Brain and Mind Sciences, College of Medicine, National Taiwan University, Taiwan, 2.Department of Pediatrics, Yong-He Cardinal Tien Hospital, Taiwan)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder and has been identified in an increasing number of children worldwide. Among the possible genetic and epigenetic etiology of ASD, previous studies have suggested the pathogenesis of ASD could involve dysregulated monoallelic expression (MAE). Nevertheless, comprehensive analyses of MAE in patients with ASD have not been conducted. To fill this critical knowledge gap, we obtained human parent-child trios samples (offspring’s postmortem brains and parental blood) from parents with both non-ASD and ASD offspring. By performing transcriptomic and allelic-specific expression (ASE) analysis in this ASD trios set, we observed distinct MAE pattern of genes and miRNAs in non-ASD and ASD prefrontal cortex (PFC). We also observed abnormal imprinting status and expression level of imprinted genes and miRNAs in autistic PFC. Taken together, our results demonstrate the abnormality of MAE in autistic PFC, and may provide mechanistic insights for the pathogenesis of ASD. These differential expression patterns may help us to develop a novel set of ASD susceptibility genes with altered MAE and enlighten further investigation of epigenetic mechanisms in patients with ASD and animal models.