Consistent disruption of the AML1 gene occurs within a single intron in the t(8;21) chromosomal translocation.
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.
Shimizu
K
K
Department of Immunology and Virology, Saitama Cancer Center Research Institute, Japan.
Miyoshi
H
H
Kozu
T
T
Nagata
J
J
Enomoto
K
K
Maseki
N
N
Kaneko
Y
Y
Ohki
M
M
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