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    Investigation of RNA Binding Protein Pumilio as a Genetic Modifier of Mutant CHMP2B in Frontotemporal Dementia (FTD): A Masters Thesis

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    Authors
    Du, Xing
    Faculty Advisor
    Andreas Bergmann
    Academic Program
    Interdisciplinary Graduate Program
    UMass Chan Affiliations
    Molecular, Cell and Cancer Biology Department
    Document Type
    Master's Thesis
    Publication Date
    2016-08-14
    Keywords
    Theses, UMMS
    Frontotemporal Dementia
    RNA-Binding Proteins
    Endosomal Sorting Complexes Required for Transport
    Frontotemporal Dementia
    RNA-Binding Proteins
    Endosomal Sorting Complexes Required for Transport
    Biochemistry
    Genetics and Genomics
    Medical Genetics
    Molecular Biology
    Nervous System Diseases
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    Abstract
    Frontotemporal dementia (FTD) is the second most common early-onset dementia. A rare mutation in CHMP2B gene was found to be associated with FTD linked to chromosome 3. Previous studies have shown that mutant CHMP2B could lead to impaired autophagy pathway and altered RNA metabolism. However, it is still unknown what genes mediate the crosstalk between different pathways affected by mutant CHMP2B. Genetic screens designed to identify genes interacting with mutant CHMP2B represents a key approach in solving the puzzle. Expression of mutant CHMP2B (CHMP2Bintron5) in Drosophila eyes leads to a neurodegenerative phenotype including melanin deposition and disrupted internal structure of ommatidia. The phenotype is easily quantified by estimating the percentage of black dots on the surface of the eyes. Using this established Drosophila model, I searched for genes encoding RNA binding proteins that genetically modify CHMP2Bintron5 toxicity. I found that partial loss of Pumilio, a translation repressor, mitigates CHMP2Bintron5 induced toxicity in the fly eyes. Western blot analysis showed that down regulation of Pumilio does not significantly decrease CHMP2Bintron5 protein level, indicating indirect regulation involved in suppression of the phenotype. The molecular targets regulated by Pumilio and the mechanism underlying CHMP2Bintron5 toxicity suppression by Pumilio down-regulation requires further investigation.
    DOI
    10.13028/M27C7R
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/32219
    Rights
    Copyright is held by the author, with all rights reserved.
    ae974a485f413a2113503eed53cd6c53
    10.13028/M27C7R
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    Morningside Graduate School of Biomedical Sciences Dissertations and Theses

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