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TranscriptomicsDUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy
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 f...
ORGANISM(S): Homo sapiens 
2012-01-03 | E-GEOD-33799 | biostudies-arrayexpress
TranscriptomicsRetroelements and DUX4 Create Primate-specific Promoters for Germline Genes
The human double-homeodomain retrogene DUX4 is normally expressed at high levels in germ cells of the testis. When aberrantly expressed in muscle its protein product causes facioscapulohumeral muscular dystrophy (FSHD), perhaps partly by inducing inappropriate expression of germline genes. DUX4 can ...
ORGANISM(S): Homo sapiens 
2013-10-01 | E-GEOD-45883 | biostudies-arrayexpress
TranscriptomicsAn allele-aware approach identifies altered nuclear associations of the contracted D4Z4 array at the FSHD locus
Facioscapulohumeral dystrophy (FSHD) is caused by a deletion in a D4Z4 macrosatellite repeat array in the 4q subtelomere that leads to somatic de-repression of the transcription factor DUX4. It is not fully understood how array contractions cause de-repression, but they alter the local chromatin str...
ORGANISM(S): Homo sapiens 
2013-08-31 | E-GEOD-40673 | biostudies-arrayexpress
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