Autism spectrum disorders (ASD) are a pervasive neurodevelopmental disorder with thousands of implicated genes that converge on specific brain tissues, developmental times and molecular pathways. Although, the exact causes of these dysfunctional pathways in neurodevelopment are still unknown, it is likely due to aberrant expression of crucial regulatory genes. Recently, there has been a surge of evidence for the emerging regulatory mechanisms of long non-coding RNAs (lncRNAs). To explore the underlying connections between ASD neurodevelopment and aberrantly expressed lncRNAs we analyzed RNA-seq data from the temporal cortex of ASD brains with matched controls to identify differentially expressed lncRNAs, the majority of which are functionally uncharacterized. Next, we extracted expression profiles of our candidate ASD associated lncRNAs and known autism risk genes from a comprehensive neurodevelopmental transcriptome dataset. We constructed a weighted gene co-expression network to functionally characterize the candidate lncRNAs in normal tissue, utilizing a guilt by association approach. We found a biologically significant module enriched for processes related to synaptic functioning such as ion channel activity, which also contained the majority of our candidate lncRNAs. In addition, the lncRNAs present in this module show peak neurodevelopmental expression at 10-12 months, a developmentally convergent period in ASD.
Gudenas, Brian and Wang, Liangjiang, "Identification of Autism Spectrum Disorders associated Long Non-Coding RNAs shows connections to the synaptic transmission pathway." (2015). Graduate Research and Discovery Symposium (GRADS). 145.