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ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Murakami, Tetsuro 
Yang, Seung-Pil 
Xie, Lin 
Kawano, Taizo 
Fu, Donald 

Abstract

It is unclear whether mutations in fused in sarcoma (FUS) cause familial amyotrophic lateral sclerosis via a loss-of-function effect due to titrating FUS from the nucleus or a gain-of-function effect from cytoplasmic overabundance. To investigate this question, we generated a series of independent Caenorhabditis elegans lines expressing mutant or wild-type (WT) human FUS. We show that mutant FUS, but not WT-FUS, causes cytoplasmic mislocalization associated with progressive motor dysfunction and reduced lifespan. The severity of the mutant phenotype in C. elegans was directly correlated with the severity of the illness caused by the same mutation in humans, arguing that this model closely replicates key features of the human illness. Importantly, the mutant phenotype could not be rescued by overexpression of WT-FUS, even though WT-FUS had physiological intracellular localization, and was not recruited to the cytoplasmic mutant FUS aggregates. Our data suggest that FUS mutants cause neuronal dysfunction by a dominant gain-of-function effect related either to neurotoxic aggregates of mutant FUS in the cytoplasm or to dysfunction in its RNA-binding functions.

Description

Keywords

Amyotrophic Lateral Sclerosis, Animals, Animals, Genetically Modified, Caenorhabditis elegans, Cell Death, Disease Models, Animal, Female, Humans, Male, Motor Neurons, Mutation, RNA-Binding Protein FUS

Journal Title

Hum Mol Genet

Conference Name

Journal ISSN

0964-6906
1460-2083

Volume Title

21

Publisher

Oxford University Press (OUP)
Sponsorship
Medical Research Council (G0700990)
Medical Research Council (G0902243)
Medical Research Council (MC_G1000734)
Wellcome Trust (089703/Z/09/Z)
Wellcome Trust (081864/Z/06/Z)