Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.

ABSTRACT:

Background

The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level.

Method

Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls.

Results

Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several tr

SUBMITTER: Urraca N 

PROVIDER: S-EPMC5787244 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature