Phenotypic variablility associated with the 15q11.2 CNV region in a Drosophila melanogaster model for neurodevelopmental disorders

Open Access
Gould, Dagny
Area of Honors:
Bachelor of Science
Document Type:
Thesis Supervisors:
  • Santhosh Girirajan, Thesis Supervisor
  • James Harold Marden, Honors Advisor
  • 15q11.2 CNV region
  • Drosophila melanogaster
  • neurodevelopmental disorders
  • genetics
Discovering genes within copy-number variant (CNV) regions that contribute to neurodevelopmental disorders can help lead to mechanistic understanding of etiology that can lead to potential therapies. In order to determine the effects of altered expression of three target developmental genes within the specific 15q11.2 CNV region of Drosophila melanogaster, RNA interference was used to knockdown the genes, CYFIP1, NIPA2, and TUBGCP5. The resulting variable phenotypes were qualitatively and quantitatively measured. These three genes were determined to contribute to phenotypes that include eye roughness, increased lethality during development, and wing defects. An important finding is that knocking down one gene was sufficient to produce robust phenotypic variations. Thus, this experiment explored a one hit model of gene knockdown that demonstrated altered single gene expression within the 15q11.2 CNV region critically contributes to developmental outcome. Further research is needed to determine if interaction between these genes leads to a more severe phenotype.