Autism associated gene, engrailed2, and flanking gene levels are altered in post-mortem cerebellum.

ABSTRACT:

Background

Previous genetic studies demonstrated association between the transcription factor engrailed2 (EN2) and Autism Spectrum Disorder (ASD). Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. EN2 is flanked by 5 genes, serotonin receptor5a (HTR5A), insulin induced gene1 (INSIG1), canopy1 homolog (CNPY1), RNA binding motif protein33 (RBM33), and sonic hedgehog (SHH). These flanking genes are co-expressed with EN2 during development and coordinate similar developmental processes. To investigate if mRNA levels for these genes are altered in individuals with autism, post-mortem analysis was performed.

Methods

qRT-PCR quantified mRNA levels for EN2 and

SUBMITTER: Choi J 

PROVIDER: S-EPMC3919719 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature