AN EXAMINATION OF LOCOMOTIVE BEHAVIOR, GERMLINE PROLIFERATION, AND LIPID CONTENT IN A NOVEL AUTISM SPECTRUM DISORDER 16P11.2 DELETION CAENORHABDITIS ELEGANS MODEL

Open Access
Author:
Sullivan, Rhea Elena
Area of Honors:
Biochemistry and Molecular Biology
Degree:
Bachelor of Science
Document Type:
Thesis
Thesis Supervisors:
  • Dr. Santhosh Girirajan, Thesis Supervisor
  • Dr. Lorraine Santy, Honors Advisor
Keywords:
  • neurodevelopmental
  • disorders
  • autism
  • schizophrenia
  • 16p11.2
  • deletion
  • Caenorhabditis elegans
  • intellectual disability
  • proliferation
  • obesity
  • worm
Abstract:
Due to the phenotypic heterogeneity of human neurodevelopmental disorders, it is often difficult to pin point a diagnosis based on behavior alone. Though these disorders have a high degree of comorbidity, there is variance in clinical presentations that can additionally confound diagnosis. Copy number variations (CNV) in the genome have been thought to be the unidentified component that affects such clinical variation. This study examines one rare (<1%) CNV implicated in Autism Spectrum Disorder (ASD), the 16p11.2 recurrent microdeletion. I investigated the individual genes encompassed within this deletion and determined their contributions to the overall phenotypes of motor function, lipogenesis, and embryonic cell line proliferation. Caenorhabditis elegans nematode worm is used as a model for its quick reproductive cycle, high-throughput genetic manipulability, and conservation of neural networks.