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    Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq

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    Authors
    van Blitterswijk, Marka
    Wang, Eric T.
    Friedman, Brad A.
    Keagle, Pamela J.
    Leclerc, Ashley Lyn
    van den Berg, Leonard H.
    Housman, David E.
    Veldink, Jan H.
    Landers, John E.
    Lowe, Patrick
    UMass Chan Affiliations
    Department of Neurology
    Document Type
    Journal Article
    Publication Date
    2013-04-08
    Keywords
    Amyotrophic Lateral Sclerosis
    Exons
    HEK293 Cells
    Humans
    Introns
    Mutation
    RNA, Small Interfering
    RNA-Binding Protein FUS
    Sequence Analysis, RNA
    UMCCTS funding
    Genetics
    Nervous System Diseases
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    Abstract
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in severe muscle weakness and eventual death by respiratory failure. Although little is known about its pathogenesis, mutations in fused in sarcoma/translated in liposarcoma (FUS) are causative for familial ALS. FUS is a multifunctional protein that is involved in many aspects of RNA processing. To elucidate the role of FUS in ALS, we overexpressed wild-type and two mutant forms of FUS in HEK-293T cells, as well as knocked-down FUS expression. This was followed by RNA-Seq to identify genes which displayed differential expression or altered splicing patterns. Pathway analysis revealed that overexpression of wild-type FUS regulates ribosomal genes, whereas knock-down of FUS additionally affects expression of spliceosome related genes. Furthermore, cells expressing mutant FUS displayed global transcription patterns more similar to cells overexpressing wild-type FUS than to the knock-down condition. This observation suggests that FUS mutants do not contribute to the pathogenesis of ALS through a loss-of-function. Finally, our results demonstrate that the R521G and R522G mutations display differences in their influence on transcription and splicing. Taken together, these results provide additional insights into the function of FUS and how mutations contribute to the development of ALS.
    Source
    van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, Lowe P, et al. (2013) Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq. PLoS ONE 8(4): e60788. doi:10.1371/journal.pone.0060788. Link to article on publisher's site
    DOI
    10.1371/journal.pone.0060788
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/30043
    PubMed ID
    23577159
    Related Resources
    Link to article in PubMed
    Rights
    Copyright 2013 van Blitterswijk et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
    ae974a485f413a2113503eed53cd6c53
    10.1371/journal.pone.0060788
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