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<MSIGDB BUILD_DATE="Jan 29, 2026" VERSION="2026.1.Hs" NAME="export">
    <GENESET STANDARD_NAME="GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN" SYSTEMATIC_NAME="M11023" 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 GS" 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 G (Fig. 5a): specific to cells expressing both MLL-AF4 [GeneID=4297;4299] 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="1810060J02Rik,2410049M19Rik,2700007P21Rik,3000002B06Rik,4833438C02Rik,4930403O18Rik,Ahnak,AI848615,Akr1b3,AU019176,Chst1,Cpeb1,Cpox,Cspg2,Cst6,D430039N05Rik,Dgcr6,Dus4l,Dyrk3,E030031F02Rik,Elmo1,Es2el,Etv1,Gch1,Gpr19,Gsta4,Ing5,Lrch2,Mtm1,Nmt2,Pck2,Rab39b,Rnf128,Rps6ka2,Serpinb8,Slc6a8,Wdr62,Whsc1,Wnt4,Zcchc2" MEMBERS_SYMBOLIZED="AHNAK,AKR1B1,ARL14EP,CCDC91,CHST1,CPEB1,CPOX,CST6,DGCR6,DUS4L,DYRK3,ELMO1,ESS2,ETV1,FAM171B,GCH1,GPR19,ING5,LRCH2,MEGF10,MTM1,NMT2,NSD2,PCK2,RAB39B,RNF128,RPS6KA2,SERPINB8,SLC6A8,TMEM243,VCAN,WDR62,WNT4,ZCCHC2" MEMBERS_EZID="11062,116442,120534,1371,1462,1474,165215,2115,231,2643,2842,284403,4534,5106,5271,54361,54877,55297,57631,6196,64506,6535,7468,79026,79161,79589,8214,8220,84289,8444,84466,8534,9397,9844" MEMBERS_MAPPING="1810060J02Rik,CCDC91,55297|2410049M19Rik,null,null|2700007P21Rik,ARL14EP,120534|3000002B06Rik,MEGF10,84466|4833438C02Rik,null,null|4930403O18Rik,null,null|AI848615,null,null|AU019176,null,null|Ahnak,AHNAK,79026|Akr1b3,AKR1B1,231|Chst1,CHST1,8534|Cpeb1,CPEB1,64506|Cpox,CPOX,1371|Cspg2,VCAN,1462|Cst6,CST6,1474|D430039N05Rik,FAM171B,165215|Dgcr6,DGCR6,8214|Dus4l,DUS4L,11062|Dyrk3,DYRK3,8444|E030031F02Rik,TMEM243,79161|Elmo1,ELMO1,9844|Es2el,ESS2,8220|Etv1,ETV1,2115|Gch1,GCH1,2643|Gpr19,GPR19,2842|Gsta4,null,null|Ing5,ING5,84289|Lrch2,LRCH2,57631|Mtm1,MTM1,4534|Nmt2,NMT2,9397|Pck2,PCK2,5106|Rab39b,RAB39B,116442|Rnf128,RNF128,79589|Rps6ka2,RPS6KA2,6196|Serpinb8,SERPINB8,5271|Slc6a8,SLC6A8,6535|Wdr62,WDR62,284403|Whsc1,NSD2,7468|Wnt4,WNT4,54361|Zcchc2,ZCCHC2,54877" FILTERED_BY_SIMILARITY="" FOUNDER_NAMES="" REFINEMENT_DATASETS="" VALIDATION_DATASETS="" CATEGORY_CODE="C2" ORGANISM="Mus musculus" SUB_CATEGORY_CODE="CGP"/>
</MSIGDB>
