GSE67122 RNA-seq Analysis of 15q Duplication and AS Deletion DPSC derived neurons.

Contributors : Norra Urraca ; Quynh T Tran ; Grant T Belgard ; Rawaha Memon ; Sarita Goorha ; Colleen Valdez ; Silvia Sanchez ; Juanma Ramirez ; Martin Donaldson ; Dave Bridges ; Lawrence T ReiterSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensA major problem in studying neurogenetic syndromes is obtaining live neurons from people with these disorders. We have taken a novel approach to studying gene expression in neurons from Angelman or Dup15q syndrome subjects using dental pulp stem cells (DPSC). Shed teeth were collected to generate DPSC lines from 3 AS deletion, 3 15q Duplication and three neurotypical subjects. mRNAseq was performed on DPSC and DPSC derived neurons. We identified 20 genes in AS, 120 genes in 15q duplication and 3 genes in both groups (DPT, MED12L and AKRIC1) that were significantly different from control DPSC-neurons. Copy number correlated to gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially regulated in 15q duplication were down-regulated compared to controls including the transcription factors FOXO1 and HAND2, while in AS the genes did not show a clear trend except in the 15q region. Pathway analysis revealed increased cytokine activity related genes including four genes that increased in 15q duplication samples: CCL7, CCL2, MMP2 and MMP3; while steroid hormone biosynthesis genes were slightly enriched in both 15q duplication and AS neurons. ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research