title: Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation.
abstract: The AML1 gene on chromosome 21 was rearranged by the t(8;21) chromosomal translocation in acute myeloid leukemia (AML). Southern blot analysis of 21 AML patients with t(8;21), including three with complex translocations, t(8;V;21), demonstrated that all the breakpoints occurred at random within a single intron between two coding exons of AML1. Clustering of the breakpoints in the restricted intron suggests the formation of a unique fusion gene between the AML1 gene and a presumable counterpart gene on chromosome 8. Nucleotide sequencing of the breakpoint region revealed that the translocation event was accompanied by deletion of a short stretch of nucleotides.
authors.affiliation: Department of Immunology and Virology, Saitama Cancer Center Research Institute, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
authors.forename: H
authors.initials: H
authors.lastname: Miyoshi
authors.forename: T
authors.initials: T
authors.lastname: Kozu
authors.forename: J
authors.initials: J
authors.lastname: Nagata
authors.forename: K
authors.initials: K
authors.lastname: Enomoto
authors.forename: N
authors.initials: N
authors.lastname: Maseki
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: M
authors.initials: M
authors.lastname: Ohki
mesh_terms: D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D015321:Gene Rearrangement; D006801:Humans; D007438:Introns; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D009857:Oncogenes; D014178:Translocation, Genetic