title: Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.
abstract: The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine-glycine-glycine domain that is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine whether the cause of hypomethylation is the result of mutations in protein N-arginine methyltransferases (PRMTs), we selected 3 candidate genes (PRMT1, PRMT3, and PRMT8) and performed complete sequencing analysis and real-time polymerase chain reaction mRNA expression analysis in 20 FTLD-FUS cases. No mutations or statistically significant changes in expression were observed in our patient samples, suggesting that defects in PRMTs are not the cause of FTLD-FUS.
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
authors: Thomas A
authors: TA
authors: Ravenscroft
authors: Matt C
authors: MC
authors: Baker
authors: Nicola J
authors: NJ
authors: Rutherford
authors: Manuela
authors: M
authors: Neumann
authors: Ian R
authors: IR
authors: Mackenzie
authors: Keith A
authors: KA
authors: Josephs
authors: Bradley F
authors: BF
authors: Boeve
authors: Ronald
authors: R
authors: Petersen
authors: Glenda M
authors: GM
authors: Halliday
authors: Jillian
authors: J
authors: Kril
authors: John C
authors: JC
authors: van Swieten
authors: William W
authors: WW
authors: Seeley
authors: Dennis W
authors: DW
authors: Dickson
authors: Rosa
authors: R
authors: Rademakers
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D004247:DNA / Q000235:genetics*; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D011484:Protein-Arginine N-Methyltransferases / Q000235:genetics*; D012333:RNA, Messenger; D060888:Real-Time Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics*; D020539:Sequence Analysis, Protein
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D008565:Membrane Proteins; D012333:RNA, Messenger; D012097:Repressor Proteins; D004247:DNA; C099988:PRMT1 protein, human; C413164:PRMT3 protein, human; C505447:PRMT8 protein, human; D011484:Protein-Arginine N-Methyltransferases
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