Human Gene Set: TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_TOP20_UP

For the Mouse gene set with the same name, see TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_TOP20_UP

Standard name TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_TOP20_UP
Systematic name M2346
Brief description Top 20 up-regulated genes in leukemic progenitor cells expressing activated fusion of ESWR1 and FLI1 [GeneID=2130] [GeneID=2313] compared to normal hematopoetic progenitors.
Full description or abstract EWS/FLI-1 is a chimeric oncogene generated by chromosomal translocation in Ewing tumors, a family of poorly differentiated pediatric tumors arising predominantly in bone but also in soft tissue. The fusion gene combines sequences encoding a strong transactivating domain from the EWS protein with the DNA binding domain of FLI-1, an ETS transcription factor. A related fusion, TLS/ERG, has been found in myeloid leukemia. To determine EWS/FLI-1 function in vivo, we engineered mice with Cre-inducible expression of EWS/FLI-1 from the ubiquitous Rosa26 locus. When crossed with Mx1-cre mice, Cre-mediated activation of EWS/FLI-1 resulted in the rapid development of myeloid/erythroid leukemia characterized by expansion of primitive mononuclear cells causing hepatomegaly, splenomegaly, severe anemia, and death. The disease could be transplanted serially into na´ve recipients. Gene expression profiles of primary and transplanted animals were highly similar, suggesting that activation of EWS/FLI-1 was the primary event leading to disease in this model. The Cre-inducible EWS/FLI-1 mouse provides a novel model system to study the contribution of this oncogene to malignant disease in vivo.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17875932   Authors: Torchia EC,Boyd K,Rehg JE,Qu C,Baker SJ
Exact source Table 5: Ratio > 0
Related gene sets (show 3 additional gene sets from the source publication)

(show 15 gene sets from the same authors)
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Source species Mus musculus
Contributed by Arthur Liberzon (MSigDB Team)
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AFFY_Mouse430
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Version history 3.1: First introduced

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