The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. Inacute myeloid leukemia,especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of theRUNX1gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene.[7]
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^Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network".Nature.437(7062): 1173–8.Bibcode:2005Natur.437.1173R.doi:10.1038/nature04209.PMID16189514.S2CID4427026.
^Puccetti E, Obradovic D, Beissert T, Bianchini A, Washburn B, Chiaradonna F, Boehrer S, Hoelzer D, Ottmann OG, Pelicci PG, Nervi C, Ruthardt M (Dec 2002). "AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor".Cancer Res.62(23): 7050–8.PMID12460926.
^McGhee L, Bryan J, Elliott L, Grimes HL, Kazan gian A, Davis JN, Meyers S (August 2003). "Gfi-1 attaches to the nuclear matrix, associates with ETO (MTG8) and histone deacetylase proteins, and represses transcription using a TSA-sensitive mechanism".J. Cell. Biochem.89(5): 1005–18.doi:10.1002/jcb.10548.PMID12874834.S2CID25450754.
^Melnick A, Carlile GW, McConnell MJ, Polinger A, Hiebert SW, Licht JD (Dec 2000). "AML-1/ETO fusion protein is a dominant negative inhibitor of transcriptional repression by the promyelocytic leukemia zinc finger protein".Blood.96(12): 3939–47.doi:10.1182/blood.V96.12.3939.PMID11090081.
Ferrara F, Del Vecchio L (2002). "Acute myeloid leukemia with t(8;21)/AML1/ETO: a distinct biological and clinical entity".Haematologica.87(3): 306–19.PMID11869944.
Nisson PE, Watkins PC, Sacchi N (1992). "Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells".Cancer Genet. Cytogenet.63(2): 81–88.doi:10.1016/0165-4608(92)90384-K.PMID1423235.
Era T, Asou N, Kunisada T, Yamasaki H, Asou H, Kamada N, Nishikawa S, Yamaguchi K, Takatsuki K (1995). "Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells".Genes Chromosomes Cancer.13(1): 25–33.doi:10.1002/gcc.2870130105.PMID7541640.S2CID41918020.
Erickson PF, Robinson M, Owens G, Drabkin HA (1994). "The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved, putative transcription factor".Cancer Res.54(7): 1782–6.PMID8137293.
Niwa-Kawakita M, Miyoshi H, Gotoh O, Matsushima Y, Nishimura M, Shisa H, Ohki M (1996). "Cloning and gene mapping of the mouse homologue of the CBFA2T1 gene associated with human acute myeloid leukemia".Genomics.29(3): 755–759.doi:10.1006/geno.1995.9941.PMID8575770.
Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E, Suzuki M, Munakata N, Ohki M (2000). "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1".Gene.241(2): 287–295.doi:10.1016/S0378-1119(99)00481-3.PMID10675041.
