Fusion of the nucleoprotein NUP98
with HOXA9 via chromosome translocation t(7;11) (p15s;p15) causes development of AML .
Karyotyping showed t(7;11) as the only cytogenetic abnormality; this translocation between chromosomes 7p15 and 11p15 involved the NUP98
gene on chromosome 11.
Xie et al., "Coxsackievirus B3 directly induced Th17 cell differentiation by inhibiting Nup98
expression in patients with acute viral myocarditis," Frontiers in Cellular and Infection Microbiology, vol.
Fusion of the nucleoporin gene, NUP98, and the putative RNA Helicase Gene, DZXX10, by Inversion 11 (p15q22) chromosome translocation in a patient with etoposide-related myelodysplastic syndrome.
11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
The SET binding protein (SETBP1) is a SET regulator, and it is fused in frame with a nucleoporin, NUP98
. SETBP1 is overexpressed in 27.6% of acute myeloid leukemia at diagnosis and is associated with poor prognosis, particularly in elderly patients, as patients with SETBP1 overexpression had a significantly shorter overall survival and event-free survival in patients over 60 years.
For example, the carcinogenic potentials of the fusion of carboxyl terminal of Plant homeodomain (PHD) fingers (JARIDIA) with the transactivating domain of nucleoporin 98 (NUP98
) to produce JARIDIA -NU98 has been studied .
(287-289) Proteomic analysis has also shown association of NPMALK with molecules involved in DNA repair (Ku86, Ku70, PARP1 [poly(ADP-ribose) polymerase 1], MSH2, PCNA [proliferating cell nuclear antigen], and MCM6 [mini-chromosome maintenance deficient 6 homolog]) (283) and has revealed other new binding partners for NPM-ALK, including Nup98
and importin 8 (subcellular protein transport), Stim 1 (calcium signaling), and 82FIP (RNA regulation).
gene, which is located in 11p15, fuses with a number of genes from different chromosomes in usually acute leukemias [5, 16].
Topics include maintenance of quiescent hematopoietic stem cells in the osteoblastic niche, NUP98
dysregulation in myeloid leukemogenesis, the role of thrombopoietin in mast cell differentiation, and the effect of FLT3 inhibition on normal hematopoietic progenitor cells.
et al., "The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98
and class I homeoprotein HOXA9," Nature Genetics, vol.