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SRX599125: GSM1412705: C8; Homo sapiens; RNA-Seq
1 ILLUMINA (Illumina HiSeq 2500) run: 130.9M spots, 13G bases, 8.2Gb downloads

Submitted by: Gene Expression Omnibus (GEO)
Study: DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
show Abstracthide Abstract
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most of the molecular changes seen in FSHD. Since DUX4 is a transcription factor, we used RNA-seq to measure gene expression in muscle cells transduced with DUX4, and in muscle cells and biopsies from control and FSHD individuals. We show that DUX4 target gene expression is the major molecular signature in FSHD muscle together with a gene expression signature consistent with an immune cell infiltration. In addition, one unaffected individual without a known FSHD-causing mutation showed expression of DUX4 target genes. This individual has a sibling with FSHD and also without a known FSHD-causing mutation, suggesting the presence of yet unidentified modifier locus for DUX4 expression and FSHD. These findings demonstrate that expression of DUX4 accounts for the majority of the gene expression changes in FSHD skeletal muscle together with an immune cell infiltration. Overall design: RNA-seq for muscle cells and biopsies from control and FSHD individuals.
Sample: C8
SAMN02862006 • SRS637758 • All experiments • All runs
Organism: Homo sapiens
Library:
Instrument: Illumina HiSeq 2500
Strategy: RNA-Seq
Source: TRANSCRIPTOMIC
Selection: cDNA
Layout: SINGLE
Construction protocol: Muscle biopsy samples were obtained under local anesthesia by the minimally needle biopsy technique utilizing the modified Bergstrom needle. RNA was extracted, poly(A) selected, and subjected to Illumina sequencing using standard protocols to generate 100bp single-end reads. Sequencing libraries were prepared from total RNA using the TruSeq RNA Sample Prep Kit (Illumina) according to the manufacturer's instructions.
Experiment attributes:
GEO Accession: GSM1412705
Links:
External link:
Runs: 1 run, 130.9M spots, 13G bases, 8.2Gb
Run# of Spots# of BasesSizePublished
SRR1398539130,944,25513G8.2Gb2014-07-03

ID:
846192

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