FB2025_01 , released February 20, 2025
Allele: Hsap\HOXA9::HsapNUP98WT.UAS
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General Information
Symbol
Hsap\HOXA9::Hsap\NUP98WT.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0343909
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-NA9
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulates expression of the 'wild type' form of the "NUP98-HOXA9" (NA9) translocation, which fuses the amino-terminal part of human NUP98 to the carboxyl-terminal part (DNA binding domain) of human HOXA9, and causes Acute myeloid leukemia (AML).

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
NUP98/HOXA9_fusion
Variants Synonym(s)
t(7;11)(p15;p15) NUP98/HOXA9
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of Hsap\HOXA9::Hsap\NUP98WT.UAS under the control of Scer\GAL4ey.PH leads to a small eye phenotype, with an associated expansion of the anterior dorsal and ventral head cuticles; in agreement, third instar eye discs are smaller, with delayed morphogenetic furrow progression in the dorsal compartment and smaller differentiating zone.

Larvae expressing Hsap\HOXA9::Hsap\NUP98WT.UAS under the control of Scer\GAL4Hml.Δ show a fully penetrant lymph gland enlargement, where most individuals show dispersion of the primary lobe accompanied by enlargement of the secondary lobe and a few individuals showing primary lobe enlargement, as compared to controls. These larval lymph glands show increased mitotic index (phospho-H3 staining) and a severe increase in the numbers of Hml-positive lymph gland cells; this correlates with a severe increase in the number of Hml-positive circulating hemocytes, which show a similar ability to phagocyte E.coli and S.aureus as controls, although the proportion of circulating P1-positive hemocytes seems decreased. The medullary zone of non-dispersed lymph glands is smaller than controls, but there are no apparent changes in terminal differentiation into plasmocytes (P1-positive cells) or crystal cells (Hnt-positive cells), as compared to controls. The posterior signalling center is larger, with more total and mitotic cells, as compared to controls.

Depending on the Hsap\HOXA9::Hsap\NUP98WT.UAS insertion (and corresponding inducible expression levels), Scer\GAL4Hml.Δ-driven expression induces lamellocyte differentiation in the lymph gland.

Expression under the control of Scer\GAL4Pxn.PS also results in an enlarged larval lymph gland, with a severely enlarged and misshapen posterior signalling center. Expression under the control of Scer\GAL4kn-col85-GAL4 also induces a severely enlarged posterior signalling center.

Expression under the control of either Scer\GAL4ey.PH or Scer\GAL4Bx-MS1096 does not induce overgrowth in the eye disc or wing disc, respectively.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
NOT Suppressor of
Other
Phenotype Manifest In
Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
NOT Suppressor of
Other
Additional Comments
Genetic Interactions
Statement
Reference

The induction of eye-specific clones (induced by ey-FLP) that co-express hthUAS.GFP and Hsap\HOXA9::Hsap\NUP98WT.UAS under the control of Scer\GAL4Act5C.PP leads to large cuticular overgrowths in the posterior region of adult eyes.

The co-expression of Hsap\HOXA9::Hsap\NUP98WT.UAS with E(Pc)NIG.7776R, domHMS02162, or Tip60HM05049 under the control of Scer\GAL4ey.PH leads to ectopic wing-like structures in the dorsal-anterior part of the eye. Likewise, nejP/+, nej3/+ or nejG0350/+ adults expressing Hsap\HOXA9::Hsap\NUP98WT.UAS under the control of Scer\GAL4ey.PH show ectopic wing-like structures in the dorsal-anterior part of the eye.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Hsap\HOXA9::Hsap\NUP98WT.UAS
Hsap\NA9WT.UAS
Name Synonyms
Secondary FlyBase IDs
    References (3)