LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes

Author:

Saeliw Thanit,Permpoon Tiravut,Iadsee Nutta,Tencomnao Tewin,Hu Valerie W.,Sarachana Tewarit,Green Daniel,Sae-Lee Chanachai

Abstract

AbstractLong interspersed nucleotide element-1 (LINE-1) andAluelements are retrotransposons whose abilities cause abnormal gene expression and genomic instability. Several studies have focused on DNA methylation profiling of gene regions, but the locus-specific methylation of LINE-1 andAluelements has not been identified in autism spectrum disorder (ASD). Here we interrogated locus- and family-specific methylation profiles of LINE-1 andAluelements in ASD whole blood using publicly-available Illumina Infinium 450 K methylation datasets from heterogeneous ASD and ASD variants (Chromodomain Helicase DNA-binding 8(CHD8) and 16p11.2del). Total DNA methylation of repetitive elements were notably hypomethylated exclusively in ASD withCHD8variants. Methylation alteration in a family-specific manner including L1P, L1H, HAL,AluJ, andAluSfamilies were observed in the heterogeneous ASD and ASD withCHD8variants. Moreover, LINE-1 andAlumethylation within target genes is inversely related to the expression level in each ASD variant. The DNA methylation signatures of the LINE-1 andAluelements in ASD whole blood, as well as their associations with the expression of ASD-related genes, have been identified. If confirmed in future larger studies, these findings may contribute to the identification of epigenomic biomarkers of ASD.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

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