Investigation of Cell-Type-Specific Effects…

September 1, 2019
Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome

Date of Award

5-2019

Document Type

Dissertation

Degree Name

Doctor of Philosophy (PhD)

Program

Biomedical Sciences

Track

Neuroscience

Research Advisor

Lawrence T. Reiter, Ph.D.

Committee

John D. Boughter Jr, Janis M. O’Donnell, James S. Sutcliffe, J. Paul Taylor

Abstract

Duplication 15q syndrome (Dup15q) is a genetic disorder caused by duplications of the 15q11.2-q13.1 region and is characterized by developmental delay, autism spectrum disorder, and treatment resistant epilepsy. Extra copies of the E3 ubiquitin ligase UBE3A and elevated levels of UBE3A expression in neurons are thought to be the primary cause of Dup15q phenotypes. However, animal models overexpressing UBE3A in neurons have not successfully recapitulated all aspects