Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.

ABSTRACT: More than 100 genetic mutations causing X-linked Emery-Dreifuss muscular dystrophy have been identified in the gene encoding the integral inner nuclear membrane protein emerin. Most mutations are nonsense or frameshift mutations that lead to the absence of emerin in cells. Only very few cases are due to missense or short in-frame deletions. Molecular mechanisms explaining the corresponding emerin variants' loss of function are particularly difficult to identify because of the mostly intrinsically disordered state of the emerin nucleoplasmic region. We now demonstrate that this EmN region can be produced as a disordered monomer, as revealed by nuclear magnetic resonance, but rapidly self-assembles in vitro. Increases in concentration and temperature favor the formation of long curvilinear f

SUBMITTER: Herrada I 

PROVIDER: S-EPMC4869717 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature