The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.
作者： Julian Borrow , Amanda M. Shearman , Vincent P. Stanton , Reinhard Becher , Tucker Collins
DOI: 10.1038/NG0296-159
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摘要: The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB M2 and M4). We present here the molecular definition of this translocation. On chromosome 7 positional cloning revealed consistent rearrangement HOXA9 gene, which encodes class I homeodomain protein potentially involved in differentiation. 11 targets human homologue NUP98, member GLFG nucleoporin family. Chimaeric messages spliced over breakpoint fuse repeat domains NUP98 in-frame to homeobox. predicted NUP98-HOXA9 fusion may promote leukaemogenesis through inhibition HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport.
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