Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS

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Abstract
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 which is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine if 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 PCR 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.
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Ravenscroft, Thomas A
Baker, Matt C
Rutherford, Nicola J
Neumann, Manuela
MacKenzie, Ian R
Josephs, Keith A
Boeve, Bradley F
Petersen, Ronald
Halliday, Glenda
Kril, Jillian
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Publication Year
2013
Resource Type
Journal Article
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UNSW Faculty
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