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Psychiatric Genetics:
doi: 10.1097/YPG.0b013e3283635526
Original Articles

A proof-of-concept study: exon-level expression profiling and alternative splicing in autism using lymphoblastoid cell lines

Talebizadeh, Zohreha; Aldenderfer, Richarda; Wen Chen, Xueb

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Abstract

Objective: Autism is a complex, heterogeneous neurobehavioral disorder with many causes and varying degrees of severity. Some genetic implications related to autism may involve gene-regulatory processes such as alternative splicing. Here, we assess the feasibility of profiling exon-level gene expression in autism using the Affymetrix Human exon 1.0 ST array.

Methods: We examined lymphoblastoid cell line-derived RNAs from five patients with autism compared with five controls.

Results: Analysis of variance and Bonferroni multiple test correction identified 57 genes exhibiting differential exon-level expression, suggesting potential changes in the resultant alternatively spliced transcripts in autism compared with controls. Genes with differentially expressed exons included CYFIP1, a previously reported autism susceptibility gene. Furthermore, several genes recently reported to have deregulated alternative splicing in autism brain samples showed differential exon expression in our autism group.

Conclusion: The paucity of autism brain samples and extensive phenotypic heterogeneity of autism demands finding ways to also identify autism-related genomic events in accessible nonbrain resources, which may contribute in biomarker identifications. This proof-of-concept study shows that the analysis of alternative splicing in lymphoblastoid cell line samples has a potential to reveal at least a subset of brain-related deregulation of splicing machinery that might be implicated in autism.

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

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