Identification of exon skipping events associated with Alzheimer's disease in the human hippocampus.

ABSTRACT:

Background

At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer's disease (AD).

Methods

We developed a splicing decision model as a molecular mechanism to identify functional exon skipping events and genetic variation affecting alternative splicing on a genome-wide scale by integrating genomics, transcriptomics, and neuroimaging data in a systems biology approach. In this study, we analyzed RNA-Seq data of hippocampus brain tissue from Alzheimer's disease (AD; n = 24) and cognitively normal elderly controls (CN; n = 50) and identified three exon skipping events in two genes (RELN and NOS1) as significantly associated wit

SUBMITTER: Han S 

PROVIDER: S-EPMC6357347 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature