Functional test for possible genetic modifiers of piga defficiency

Update Item Information
Publication Type honors thesis
School or College School of Biological Sciences
Department Biology
Faculty Mentor Clement Y. Chow
Creator Gardner, Shalyce
Title Functional test for possible genetic modifiers of piga defficiency
Date 2023
Description PIGA deficiency is a rare X-linked recessive disorder that lacks effective treatment options. A protein encoded by the PIGA gene catalyzed the first step in biosynthesis of Glycosylphatidylinositol (GPI) anchors. Partial loss of function mutations in PIGA can prevent a cell from being able to synthesize GPI anchors resulting in a congenital disorder of glycosylation (CDG). PIGA deficiency is characterized by early on-set seizures, developmental delays, Growth abnormalities, vision impairments, deafness, decreased life expectancy, liver problems, and hypotonia. A previous gene expression analysis in PIGA neuron-specific knockdowns identified numerous genes that were differentially expressed. In this study a Drosophila model was generated to test the modifier effect of eleven of those identified genes. Six of these genes were found to demonstrate modifier effects on both male and female flies and three were found to modify disease phenotype only in males. These could be promising targets for future research on PIGA deficiency and therapy development.
Type Text
Publisher University of Utah
Language eng
Rights Management (c) Shalyce Gardner
Format Medium application/pdf
Permissions Reference URL https://collections.lib.utah.edu/ark:/87278/s6kryfve
ARK ark:/87278/s6px00vb
Setname ir_htoa
ID 2400150
Reference URL https://collections.lib.utah.edu/ark:/87278/s6px00vb
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