PL02_01 - The nuclear envelope - guardian of the genome and communication interface

PL02_01

The nuclear envelope - guardian of the genome and communication interface

 

 

 

 

U. Kutay^1,*

¹Institute of Biochemistry, Department of Biology, ETH Zurich, Zurich, Switzerland

 

Abstract: The nuclear envelope is a functionally specialized domain of the endoplasmic reticulum. The architecture of the nuclear envelope is ideally adapted to its function as a communication interface, compartment boundary, and protective shell of our genome. The critical importance of the nuclear envelope to cellular and organismal homeostasis is underscored by a spectrum of human genetic disorders termed ‘nuclear envelopathies’. These conditions - ranging from muscular dystrophies to a premature aging syndrome - arise from mutations in genes encoding nuclear envelope proteins. In my lecture, I will first provide an overview of the organization and multi-faceted functions of the nuclear envelope. I will then share our recent insights into how the nuclear envelope orchestrates genome organization, and discuss the significance of these mechanisms for genome homeostasis, cell differentiation, and nuclear mechanics. Finally, I will present our latest research on factors involved in the etiology of a rare nuclear envelopathy, primary dystonia, caused by mutations in Torsin1A, a member of the enigmatic Torsin family of AAA+-ATPases.

 

 

Disclosure of Interest: None declared