z-logo
open-access-imgOpen Access
Mutant FUS and ELAVL4 (HuD) Aberrant Crosstalk in Amyotrophic Lateral Sclerosis
Author(s) -
Riccardo De Santis,
Vincenzo Alfano,
Valeria de Turris,
Alessio Colantoni,
Laura Santini,
Maria Giovanna Garone,
Giuseppe Antonacci,
Giovanna Peruzzi,
Emma Sudrià-Lopez,
Emanuel Wyler,
Jasper J. Anink,
Eleonora Aronica,
Markus Landthaler,
R. Jeroen Pasterkamp,
Irene Bozzoni,
Alessandro Rosa
Publication year - 2019
Publication title -
cell reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.264
H-Index - 154
eISSN - 2639-1856
pISSN - 2211-1247
DOI - 10.1016/j.celrep.2019.05.085
Subject(s) - amyotrophic lateral sclerosis , mutant , stress granule , rna binding protein , biology , rna , tardbp , wild type , microbiology and biotechnology , crosstalk , gene , genetics , messenger rna , sod1 , medicine , pathology , physics , disease , translation (biology) , optics
Amyotrophic lateral sclerosis (ALS) has been genetically linked to mutations in RNA-binding proteins (RBPs), including FUS. Here, we report the RNA interactome of wild-type and mutant FUS in human motor neurons (MNs). This analysis identified a number of RNA targets. Whereas the wild-type protein preferentially binds introns, the ALS mutation causes a shift toward 3' UTRs. Neural ELAV-like RBPs are among mutant FUS targets. As a result, ELAVL4 protein levels are increased in mutant MNs. ELAVL4 and mutant FUS interact and co-localize in cytoplasmic speckles with altered biomechanical properties. Upon oxidative stress, ELAVL4 and mutant FUS are engaged in stress granules. In the spinal cord of FUS ALS patients, ELAVL4 represents a neural-specific component of FUS-positive cytoplasmic aggregates, whereas in sporadic patients it co-localizes with phosphorylated TDP-43-positive inclusions. We propose that pathological mutations in FUS trigger an aberrant crosstalk with ELAVL4 with implications for ALS.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here
Accelerating Research

Address

John Eccles House
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom