The Autism Spectrum Disorders (ASD) refer to a large heterogeneous set of developmental disorders defined by two behavioral domains: 1) Impairment of social comprehension and abnormal development of social communication, and 2) the presence of stereotypical and repetitive behaviors. The etiology of ASD is complex, with both genetic and environmental components. De novo and inherited mutations within DPP6 and PSMD12 have been identified within individuals diagnosed with ASD suggesting an etiologic role. Understanding the functionality of these genes could lead novel treatments for ASD. Zebrafish were utilized as a model system for the assessment of functionality of the orthologous genes dpp6a, dpp6b, and psmd12. Zebrafish are an ideal model system for neurological disorders because they develop quickly, share many fundamental brain structures and capacities with humans, and are genetically malleable. This work demonstrates commercially available antibodies designed to DPP6 bind promiscuously; therefore, necessitating a continued search for specific antibodies. In addition, three TALE Nucleases (TALENs) were designed to specifically target the psmd12 gene. In order to elucidate psmd12 mutants, genotyping assays were designed and a specific antibody was ascertained. These tools will be critical in the development of an allelic series and functional assessment of psmd12.
Date of publication
Brent Bill, Ph.D., Kate Hertweck, Ph.D., Blake Bextine, Ph.D., Dustin Patterson, Ph.D.
Master of Science in Biology
Kite, Elyse P., "NEURAL EXPRESSION AND FUNCTION OF AUTISM CANDIDATE GENES IN ZEBRAFISH" (2017). Biology Theses. Paper 41.