Investigating the Role of Emerin in Nuclear Envelope Budding and Muscular Disease

Probst, Maxwell

Undergraduate Honors Thesis

Investigating the Role of Emerin in Nuclear Envelope Budding and Muscular Disease Public Deposited

Analytics

Download PDF

Citations

Citeable URL: https://scholar.colorado.edu/concern/undergraduate_honors_theses/nc580p10d

Abstract

Nuclear envelope (NE) budding was first observed in the mid-20th century and has garnered more interest in recent years. Believed to follow a mechanism similar to herpes virus (HV) egress, the dynamics of this phenomenon have not been well documented in mammalian cells. Unpublished data in the Voeltz lab has established Emerin, an INM protein, as a bona fide marker of NE buds in C2C12, a murine muscle cell line. Furthermore, mutations in proteins that localize to the NE, such as Emerin, are linked to muscle disease. The aim of this study was to create tools capable of investigating the dynamics of NE budding, Emerin’s role in muscle disease pathogenesis, and a potential link between the two. To do so, C2C12 cells expressing INM and ONM fluorescent markers, Emerin-specific shRNAs, and Emerin mutants associated with Emery-Dreyfuss muscular dystrophy (EDMD) were created. Among cells transduced with INM and ONM fluorescent markers, around half co-express both, making them inviting cell lines for live imaging of NE buds. Emerin KD cells exhibited decreased efficiency of differentiation, suggesting that Emerin plays a role in myogenesis. Finally, Emerin mutant cells displayed unaltered localization of Emerin, suggesting that these pathogenic mutations do not impact the protein’s ability to localize at the NE. These findings provide opportunities for further research into the dynamics of NE budding, Emerin’s role in the mechanism of NE budding, and pathogenesis of muscle disease.

Creator