Nakamura T, Largaespada D A, Lee M P, Johnson L A, Ohyashiki K, Toyama K, Chen S J, Willman C L, Chen I M, Feinberg A P, Jenkins N A, Copeland N G, Shaughnessy J D
Mammalian Genetics Laboratory, NCI-Frederick Cancer Research and Development Center, Maryland 21702, USA.
Nat Genet. 1996 Feb;12(2):154-8. doi: 10.1038/ng0296-154.
Expression of Hoxa7 and Hoxa9 is activated by proviral integration in BXH2 murine myeloid leukaemias. This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t(7;11)(p15;p15) translocation found in some human myeloid leukaemia patients. Here we show that in three patients with t(7;11), the chromosome rearrangement creates a genomic fusion between the HOXA9 gene and the nucleoporin gene NUP98 on chromosome 11p15. The translocation produces an invariant chimaeric NUP98/HOXA9 transcript containing the amino terminal half of NUP98 fused in frame to HOXA9. These studies identify HOXA9 as an important human myeloid leukaemia gene and suggest an important role for nucleoporins in human myeloid leukaemia given that a second nucleoporin, NUP214, has also been implicated in human myeloid leukaemia.
在BXH2小鼠髓系白血病中，原病毒整合激活了Hoxa7和Hoxa9的表达。这一结果，再加上HOXA基因座定位于人类染色体7p15，表明HOXA基因之一可能与一些人类髓系白血病患者中发现的t(7;11)(p15;p15)易位有关。在此我们表明，在三名患有t(7;11)的患者中，染色体重排导致HOXA9基因与11号染色体p15上的核孔蛋白基因NUP98之间发生基因组融合。该易位产生一种恒定的嵌合NUP98/HOXA9转录本，其包含NUP98的氨基末端一半与HOXA9框内融合。这些研究将HOXA9鉴定为一种重要的人类髓系白血病基因，并鉴于另一种核孔蛋白NUP214也与人类髓系白血病有关，提示核孔蛋白在人类髓系白血病中起重要作用。
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