title: Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
abstract: The t(8;21) translocation is one of the most frequent chromosomal abnormalities in acute myeloid leukaemia and results in gene fusion between AML1 on chromosome 21 and MTG8 (= ETO or CDR) on chromosome 8. AML1 contains a region of sequence homology to the Drosophila runt gene and the mouse polyomavirus enhancer binding protein PEBP2 alpha gene. The rearrangement occurs within a specific intron of the AML1 gene and results in the formation of a chimaeric protein with the consistent feature that the region of sequence homology of AML1 is fused with almost the entire MTG8 protein. MTG8 (ETO, CDR) is predicted to be a transcription activation factor from its sequence with zinc-finger motifs and proline-rich domains. Thus the rearrangement is a fusion between two probable transcription activation factors.
authors.affiliation: Radiobiology Division, National Cancer Center Research Institute, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ohki
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002891:Chromosomes, Human, Pair 21 / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D016384:Consensus Sequence; D050676:Core Binding Factor Alpha 2 Subunit; D050657:Core Binding Factor alpha Subunits; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D011485:Protein Binding; D017434:Protein Structure, Tertiary; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; D017386:Sequence Homology, Amino Acid; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D014158:Transcription, Genetic; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D050657:Core Binding Factor alpha Subunits; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; C493674:TfAP-2 protein, Drosophila; D050656:Transcription Factor AP-2; D014157:Transcription Factors; C080833:run protein, Drosophila