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| Status |
Public on Jan 03, 2012 |
| Title |
DUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy |
| Organism |
Homo sapiens |
| Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
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| Summary |
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited muscular dystrophies. The causative gene remains controversial and the mechanism of pathophysiology unknown. Here we identify genes associated with germline and early stem cell development as targets of the DUX4 transcription factor, a leading candidate gene for FSHD. The genes regulated by DUX4 are reliably detected in FSHD muscle but not in controls, providing direct support for the model that misexpression of DUX4 is a causal factor for FSHD. Additionally, we show that DUX4 binds and activates LTR elements from a class of MaLR endogenous primate retrotransposons and suppresses the innate immune response to viral infection, at least in part through the activation of DEFB103, a human defensin that can inhibit muscle differentiation. These findings suggest specific mechanisms of FSHD pathology and identify candidate biomarkers for disease diagnosis and progression.
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| Overall design |
Examine Dux4 full isoform binding sites in human fibroblast.
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| Contributor(s) |
Geng LN, Yao Z, Tapscott SJ |
| Citation(s) |
22209328, 25789155 |
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| Submission date |
Nov 21, 2011 |
| Last update date |
Jun 13, 2019 |
| Contact name |
Stephen Tapscott |
| E-mail(s) |
stapscot@fredhutch.org
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| Organization name |
Fred Hutch Cancer Research Center
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| Department |
Human Biology
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| Lab |
Tapscott
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| Street address |
1100 Fairview N. Ave
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| City |
Seattle |
| State/province |
WASHINGTON |
| ZIP/Postal code |
98103 |
| Country |
USA |
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| Platforms (1) |
| GPL10999 |
Illumina Genome Analyzer IIx (Homo sapiens) |
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| Samples (2) |
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| Relations |
| SRA |
SRP009409 |
| BioProject |
PRJNA148093 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE33838_RAW.tar |
4.7 Gb |
(http)(custom) |
TAR (of BAI, BAM, BEDGRAPH, CSV) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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