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

Saeliw, Thanit, Permpoon, Tiravut, Iadsee, Nutta, Tencomnao, Tewin, Hu, Valerie W, Sarachana, Tewarit, Green, Daniel and Sae-Lee, Chanachai (2022) LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes. Scientific reports, 12 (1). p. 13970.

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Official URL: http://dx.doi.org/10.1038/s41598-022-18232-6

Abstract

Long interspersed nucleotide element-1 (LINE-1) and Alu elements 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 and Alu elements has not been identified in autism spectrum disorder (ASD). Here we interrogated locus- and family-specific methylation profiles of LINE-1 and Alu elements 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 with CHD8 variants. Methylation alteration in a family-specific manner including L1P, L1H, HAL, AluJ, and AluS families were observed in the heterogeneous ASD and ASD with CHD8 variants. Moreover, LINE-1 and Alu methylation within target genes is inversely related to the expression level in each ASD variant. The DNA methylation signatures of the LINE-1 and Alu elements 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.

Item Type:	Article
Uncontrolled Keywords:	Humans, Autistic Disorder, DNA Methylation, Long Interspersed Nucleotide Elements, Alu Elements, Autism Spectrum Disorder
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Depositing User:	Symplectic Admin
Date Deposited:	01 Feb 2024 09:38
Last Modified:	01 Feb 2024 09:38
DOI:	10.1038/s41598-022-18232-6
Open Access URL:	https://doi.org/10.1038/s41598-022-18232-6
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3178231