t(8;21) breakpoints are clustered between alternatively spliced exons of MTG8.
1. The (8;21) translocation, which is consistently associated with a subgroup of acute myeloid leukaemia, involves two loci: runt on chromosome 21 and MTG8 on chromosome 8. 2. Breakpoints in runt fall within a single intron that is located immediately downstream of a phylogenetically conserved DNA-binding domain (the 'runt box'). 3. We now show that most breakpoints on chromosome 8 fall within a region between two alternative 5' MTG8 exons. Thus, we predict that chimaeric genes on both the derivative(8) and the derivative(21) chromosomes have the potential to be transcriptionally active.
D000208:Acute Disease; D015139:Blotting, Southern; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D029721:Drosophila Proteins; D005091:Exons / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007951:Leukemia, Myeloid / Q000235:genetics*; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*
D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C082222:RUNX1T1 protein, human; D014157:Transcription Factors; C080833:run protein, Drosophila