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Series GSE98839 Query DataSets for GSE98839
Status Public on Nov 11, 2017
Title Emerging pathways of dystonia pathogenesis: eIF2α and neuroplasticity defects in DYT6
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1, a zinc-finger transcription factor, cause DYT6, but its neuronal targets and functions are unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1C54Y or Exon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α Signaling, Mitochondrial Dysfunction, Neuron Projection Development, Axonal Guidance Signaling, and Synaptic Long Term Depression pathways, which are dysregulated in a genotype and tissue-dependent manner. Electrophysiological and neurite outgrowth assays confirmed the functional significance of those findings. Notably, several of these pathways were recently implicated in other forms of inherited dystonia, including DYT1. We conclude that dysfunction of these pathways may represent a point of convergence on the pathogenesis of unrelated forms of inherited dystonia.
 
Overall design We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1C54Y or deltaExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum
 
Contributor(s) Zuchra Z, Michelle EE
Citation(s) 29364887
Submission date May 11, 2017
Last update date Jun 11, 2019
Contact name Ben Readhead
E-mail(s) ben.readhead@asu.edu
Organization name ASU-Banner Neurodegenerative Disease Research Center
Street address 797 E. Tyler Street
City Tempe
State/province AZ
ZIP/Postal code 85281
Country USA
 
Platforms (1)
GPL17021 Illumina HiSeq 2500 (Mus musculus)
Samples (32)
GSM2616098 Thap1C54Y/+ Cerebellum rep1
GSM2616099 Thap1C54Y/+ Cerebellum rep2
GSM2616100 Thap1C54Y/+ Cerebellum rep3
Relations
BioProject PRJNA386372
SRA SRP106915

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE98839_Count_matrix.txt.gz 1.1 Mb (ftp)(http) TXT
GSE98839_Normalized_expression.txt.gz 4.5 Mb (ftp)(http) TXT
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