Breakpoint clusters of the PML gene in acute promyelocytic leukemia: primary structure of the reciprocal products of the PML-RARA gene in a patient with t(15;17).
DNA studies of the translocation t(15;17) in acute promyelocytic leukemia (APL) have shown that the retinoic acid receptor alpha (RARA) gene on chromosome 17 is juxtaposed to the promyelocytic leukemia (PML) gene on chromosome 15. The PML breakpoints have been mapped to 3 clusters: bcr1, bcr2, and bcr3. We have examined the PML breakpoint distribution in a series of 33 Chinese patients with APL. Twenty-two patients fell within bcr1, 2 within bcr2, and 9 within bcr3. The primary structure of the reciprocal chromosome translocation joints of one patient and that of their normal counterparts have been determined and compared to those of 2 previously reported cases. These studies revealed possible topoisomerase II cleavage sites close to the breakpoints and suggested implications of DNA attachment sites to nuclear matrix. We propose that these features are relevant to the process of illegitimate recombination generating the translocation.
Dong
S
S
Laboratory of Molecular Biology, Shanghai Rui-Jin Hospital, Shanghai Second Medical University, China.
Geng
J P
JP
Tong
J H
JH
Wu
Y
Y
Cai
J R
JR
Sun
G L
GL
Chen
S R
SR
Wang
Z Y
ZY
Larsen
C J
CJ
Berger
R
R
D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure*; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D004250:DNA Topoisomerases, Type II / Q000235:genetics; D015321:Gene Rearrangement; D005796:Genes; D006801:Humans; D007438:Introns; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D018168:Receptors, Retinoic Acid; D011993:Recombinant Fusion Proteins / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
D002352:Carrier Proteins; D009363:Neoplasm Proteins; D018168:Receptors, Retinoic Acid; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors; D004250:DNA Topoisomerases, Type II