Human Gene Set: EBAUER_MYOGENIC_TARGETS_OF_PAX3_FOXO1_FUSION


Standard name EBAUER_MYOGENIC_TARGETS_OF_PAX3_FOXO1_FUSION
Systematic name M16123
Brief description Muscle development genes up-regulated in Rh4 cells (alveolar rhabdomyosarcoma, ARMS) but not in the RD cells (embryonal rhabdomyosarcoma, ERMS) after knockdown of PAX3-FOXO1 [GeneID=5077;2308] fusion by RNAi for 72 hr.
Full description or abstract The chromosomal translocation t(2;13), characteristic for the aggressive childhood cancer alveolar rhabdomyosarcoma (aRMS), generates the chimeric transcription factor PAX3/FKHR with a well known oncogenic role. However, the molecular mechanisms mediating essential pathophysiological functions remain poorly defined. Here, we used comparative expression profiling of PAX3/FKHR silencing in vitro and PAX3/FKHR-specific gene signatures in vivo to identify physiologically important target genes. Hereby, 51 activated genes, both novel and known, were identified. We also found repression of skeletal muscle-specific genes suggesting that PAX3/FKHR blocks further differentiation of aRMS cells. Importantly, TFAP2B was validated as direct target gene mediating the anti-apoptotic function of PAX3/FKHR. Hence, we developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17525748   Authors: Ebauer M,Wachtel M,Niggli FK,Schäfer BW
Exact source Table 2
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Source species Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
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identifier namespace		 AFFY_HG_U133
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