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FB2026_01
,
released March 12, 2026
This report describes acute myeloid leukemia, NUP98-HOXA9 fusion, which is one of a number of subtypes of acute myeloid leukemia caused by specific translocations. The two human genes involved in this translocation are NUP98, a nucleoporin that participates in many cellular processes including nuclear import, nuclear export, mitotic progression, and regulation of gene expression, and HOXA9, a homeobox-containing transcription factor. The NUP98-HOXA9 translocation is also known as NA9. Translocations between NUP98 and many other partner genes have been observed in different leukemias (see MIM:601021 and Struski et al., 2017, pubmed:27694926).
The Drosophila model of this disease is based on the introduction of UAS constructs of the human fusion gene (indicated as Hsap\HOXA9::Hsap\NUP98) into flies. When this human fusion gene is expressed during Drosophila larval hematopoiesis, in developing lymph glands and in circulating hemocytes, overgrowth of hematopoietic tissues due to increased cell proliferation is observed. An increase in the proportion of differentiated hemocytes is observed, at the expense of progenitor cells. The ability of Hsap\HOXA9::Hsap\NUP98 expression to induce hyperplastic overgrowth phenotypes does not appear to be a general phenomenon as expression of the fusion gene during eye or wing imaginal disc development does not trigger tissue overgrowth.
[updated Nov. 2018 by FlyBase; FBrf0222196]
Acute myeloid leukemia (AML) is one of the most common types of leukemia among adults; it is uncommon under age 40. (Most childhood leukemias are acute lymphocytic leukemia, ALL). AML affects myeloid cells, resulting in an abundance of abnormal immature cells within the blood-cell-producing bone marrow; normal hematopoietic processes become increasingly compromised. Persons with AML are more likely to have infections and have an increased risk of bleeding as the numbers of healthy blood cells decrease. [from MedlinePlus; https://www.nlm.nih.gov/medlineplus/ency/article/000542.htm ]
Translocations between NUP98 and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF repeat domain of NUP98 to the C-terminus of the partner gene. [Gene Cards, NUP98; 2018.11.15]
NUP98 encodes a precursor protein that is cleaved to generate two nucleoporin proteins (one 98 kDa and one 96 kDa); the 98 kDa protein only is produced by some alternative transcripts. Nucleoporins typically act as subunits of nuclear pore complexes (NPCs) that regulate the transport of macromolecules between the nucleus and cytoplasm. The 96 kDa nucleoporin is a scaffold component of the NPC. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. [Gene Cards, NUP98; 2018.11.15]
HOXA9 encodes a homoeobox gene, a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [Gene Cards, HOXA9; 2018.11.15]
Many to one; multiple human HOX genes are of the Abd-B type.
One to one: 1 human to 1 Drosophila.