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Dissertation
Novel roles for Drosophila lilliputian in neurogenesis and behavior
Doctor of Philosophy (Ph.D.), Drexel University
Nov 2012
DOI:
https://doi.org/10.17918/etd-3971
Abstract
Approximately 3% of the population is diagnosed as having an intellectual disability, including rare inherited conditions such as Fragile X E (FRAXE), a rare non-syndromic heritable form of Fragile X mental retardation. Mutations in the FMR2 gene, which lead to gene silencing of FMR2, have been found in patients with FRAXE. However, the targets and processes that FMR2 regulate and the gene's relation to disease symptoms remain elusive. The complexity of the human nervous system lends to the difficulty in determining the genetic links to intellectual disability, suggesting the need for simplistic lab models to explore the molecular causes of symptoms and the contributions of FMR2 to FRAXE. My research has utilized the Drosophila ortholog of FMR2, lilliputian (lilli) a putative transcription factor, to uncover the role of Lilli in development and behavior. We have successfully identified three targets of Lilli with roles in neurogenesis: the basic Helix-Loop-Helix transcription factors atonal, daughterless, and hairy. Additionally, we created a viable genetic background of a lilli loss-of-function allele in order to determine the developmental and behavioral consequences associated with loss of Lilli. The goal of my project is to extend our understanding of the roles of Lilli in the neuronal mechanisms and pathology of FRAXE hereditary mental retardation.
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Details
- Title
- Novel roles for Drosophila lilliputian in neurogenesis and behavior
- Creators
- Ginnene Marie DiStefano - DU
- Contributors
- Daniel Marenda (Advisor) - Drexel University (1970-)
- Awarding Institution
- Drexel University
- Degree Awarded
- Doctor of Philosophy (Ph.D.)
- Publisher
- Drexel University; Philadelphia, Pennsylvania
- Resource Type
- Dissertation
- Language
- English
- Academic Unit
- Biology; College of Arts and Sciences; Drexel University
- Other Identifier
- 3971; 991014632202304721