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The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the
MLL gene to the CBP gene
T Taki, M Sako, M Tsuchida and Y Hayashi
Department of Pediatrics, Faculty of Medicine, University of Tokyo,
Bunkyo-ku, Japan.
The recurrent translocation t(11;16)(q23;p13) has been reported to be
associated with therapy-related acute leukemia. The MLL gene involved in
other 11q23 abnormalities was also rearranged by this translocation. We
analyzed two patients with myelodysplastic syndrome with t(11;16) and
showed that the MLL gene on 11q23 was fused with CREB-binding protein (CBP)
gene on 16p13 in these patients. The CBP gene encodes a transcriptional
adaptor/coactivator protein and it is mutated in patients with
Rubinstein-Taybi syndrome. The CBP gene is also involved in acute myeloid
leukemia (AML) with t(8;16)(p11;p13). In-frame MLL-CBP fusion transcripts
combine the MLL AT-hook motifs and DNA methyltransferase homology region
with a largely intact CBP. Our results combined with the finding of the
MOZ-CBP fusion in t(8;16)-AML suggest that the CBP gene may be associated
with leukemogenesis through translocations.
Volume 89,
Issue 11,
pp. 3945-3950,
06/01/1997
Copyright © 1997 by The American Society of Hematology

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