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<MSIGDB BUILD_DATE="Jan 29, 2026" VERSION="2026.1.Hs" NAME="export">
    <GENESET STANDARD_NAME="GAUSSMANN_MLL_AF4_FUSION_TARGETS_D_DN" SYSTEMATIC_NAME="M527" HISTORICAL_NAMES="" PMID="17130830" AUTHORS="Gaussmann A,Wenger T,Eberle I,Bursen A,Bracharz S,Herr I,Dingermann T,Marschalek R" GEOID="" EXACT_SOURCE="Table DS" GENESET_LISTING_URL="" EXTERNAL_DETAILS_URL="" CHIP="MOUSE_GENE_SYMBOL" CONTRIBUTOR="Arthur Liberzon" CONTRIBUTOR_ORG="MSigDB Team" DESCRIPTION_BRIEF="Down-regulated genes from the set D (Fig. 5a): specific signature shared by cells expressing MLL-AF4 [GeneID=4297;4299] alone and those expressing both MLL-AF4 and AF4-MLL fusion proteins." DESCRIPTION_FULL="The reciprocal chromosomal translocation t(4;11) is correlated with infant, childhood, adult and therapy-related high-risk acute leukemia. Here, we investigated the biological effects of MLL.AF4, AF4.MLL or the combination of both reciprocal fusion proteins in a conditional in vitro cell culture model system. Several parameters like cell growth, cell cycling capacity, apoptotic behavior and growth transformation were investigated under physiological and stress conditions. Co-transfected cells displayed the highest resistance against apoptotic triggers, cell cycling capacity and loss-of-contact inhibition. These analyses were complemented by gene expression profiling experiments and specific gene signatures were established for each of the three cell lines. Interestingly, co-transfected cells strongly upregulate the homeobox gene Nanog. In combination with Oct4, the Nanog homeoprotein is steering maintenance of pluripotency and self-renewal in embryonic stem cells. Transcription of Nanog and other stem cell factors, like Oct4 and Bmi1, was verified in biopsy material of t(4;11) patient cells which express both reciprocal t(4;11) fusion genes. In conclusion, the presence of both reciprocal MLL fusion proteins confers biological properties known from t(4;11) leukemia, suggesting that each of the two fusion proteins contribute specific properties and, in combination, also synergistic effects to the leukemic phenotype." TAGS="" MEMBERS="2610305D13Rik,5730405I09Rik,Acpl2,Afp,Aldh1a1,Dusp4,Gpc1,Gpc6,MGI:2176230,Slc35c2" MEMBERS_SYMBOLIZED="AFP,ALDH1A1,APOBR,CCNY,DUSP4,GPC1,GPC6,PXYLP1,SLC35C2" MEMBERS_EZID="10082,174,1846,216,219771,2817,51006,55911,92370" MEMBERS_MAPPING="2610305D13Rik,null,null|5730405I09Rik,CCNY,219771|Acpl2,PXYLP1,92370|Afp,AFP,174|Aldh1a1,ALDH1A1,216|Dusp4,DUSP4,1846|Gpc1,GPC1,2817|Gpc6,GPC6,10082|MGI:2176230,APOBR,55911|Slc35c2,SLC35C2,51006" FILTERED_BY_SIMILARITY="" FOUNDER_NAMES="" REFINEMENT_DATASETS="" VALIDATION_DATASETS="" CATEGORY_CODE="C2" ORGANISM="Mus musculus" SUB_CATEGORY_CODE="CGP"/>
</MSIGDB>
