Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the preferential death of motor neurons. Approximately 10% of ALS cases are familial and 90% are sporadic. Fused in sarcoma (FUS) is a ubiquitously expressed RNA-binding protein implicated in familial ALS and frontotemporal dementia (FTD). The physiological function and pathological mechanism of FUS are not well understood, particularly whether post-translational modifications play a role in regulating FUS function. In this study, we discovered that FUS was acetylated at lysine-315/316 (K315/K316) and lysine-510 (K510) residues in two distinct domains. Located in the nuclear localization sequence, K510 acetylation disrupted the interaction between FUS and Transportin-1, resulting in the mislocalization of FUS in the cytoplasm and formation of stress granule-like inclusions. Located in the RNA recognition motif, K315/K316 acetylation reduced RNA binding to FUS and decreased the formation of cytoplasmic inclusions. Treatment with deacetylase inhibitors also significantly reduced the inclusion formation in cells expressing ALS mutation P525L. More interestingly, familial ALS patient fibroblasts showed higher levels of FUS K510 acetylation as compared with healthy controls. Lastly, CREB-binding protein/p300 acetylated FUS, whereas both sirtuins and histone deacetylases families of lysine deacetylases contributed to FUS deacetylation. These findings demonstrate that FUS acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS, implicating a potential role of acetylation in the pathophysiological process leading to FUS-mediated ALS/FTD.
| Original language | English |
|---|---|
| Pages (from-to) | 2684-2697 |
| Number of pages | 14 |
| Journal | Human Molecular Genetics |
| Volume | 29 |
| Issue number | 16 |
| DOIs | |
| State | Published - Aug 15 2020 |
Bibliographical note
Publisher Copyright:© 2020 Oxford University Press. All rights reserved.
Funding
National Institute of Neurological Disorder and Stroke (R01NS077284 to H.Z.); Muscular Dystrophy Association (MDA352743 to H.Z.); Department of Veteran Affairs Merit Review (I01 BX002149 to H.Z.); National Institute of Neurological Disorders and Stroke (R21 NS095299 to J.G.). National Institute of Environmental Health Sciences Training (T32ES07266); University of Kentucky College of Medicine Fellowship for Excellence in Graduate Research (to A.A). Molecular graphics program ChimeraX is developed by the Resource for Biocomputing, Visualization, and Informatics at the University of California, San Francisco, with support from National Institutes of Health (R01-GM129325) and the Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases.
| Funders | Funder number |
|---|---|
| University of Kentucky College of Medicine | |
| National Institutes of Health (NIH) | R01-GM129325 |
| National Institute of Allergy and Infectious F32-AI286447 Cydney N. Johnson Diseases National Institute of Allergy and Infectious R01AI168214 Jason W. Rosch Diseases National Institute of Allergy and Infectious P30 Cydney N. Johnson Diseases National Institute of Allergy and Infectious R00-AI166116 Christopher D. Radka Diseases National Institute of Allergy and Infectious T32-AI106700 Cydney N. Johnson Diseases National Institute of Allergy and Infectious R01AI192221 Jason W. Rosch Diseases National Inst... | |
| Institute of Neurological Disorders and Stroke National Advisory Neurological Disorders and Stroke Council | R01NS115507, R21 NS095299, R01NS077284 |
| National Institutes of Health/National Institute of Environmental Health Sciences | T32ES07266 |
| U.S. Department of Veterans Affairs | I01 BX002149 |
| Muscular Dystrophy Association | MDA352743 |
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Genetics(clinical)
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