title: Consistent fusion of MOZ and TIF2 in AML with inv(8)(p11q13).
abstract: We have recently cloned the inv(8)(p11q13) in a patient with acute myeloid leukemia (AML), and demonstrated a fusion between the MOZ and TIF2 genes at 8p11 and 8q13, respectively. We have partially characterized a further case of AML with the same karyotypic abnormality. Rearrangements were detected by Southern blotting with a TIF2 probe that was close to the breakpoint in the original inv(8) case and with a MOZ probe corresponding to the breakpoint cluster region in the t(8;16) (p11;p13). These findings indicate the existence of breakpoint cluster regions within both genes and demonstrate that the MOZ-TIF2 fusion is consistently associated with the inv(8)(p11q13).
authors.affiliation: Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Carapeti
authors.forename: R C
authors.initials: RC
authors.lastname: Aguiar
authors.forename: A E
authors.initials: AE
authors.lastname: Watmore
authors.forename: J M
authors.initials: JM
authors.lastname: Goldman
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D015139:Blotting, Southern; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D051548:Histone Acetyltransferases; D006801:Humans; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008957:Models, Genetic; D008969:Molecular Sequence Data; D051958:Nuclear Receptor Coactivator 2; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C498001:NCOA2 protein, human; D051958:Nuclear Receptor Coactivator 2; D014157:Transcription Factors; D000123:Acetyltransferases; D051548:Histone Acetyltransferases; C108712:KAT6A protein, human