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Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS
https://oist.repo.nii.ac.jp/records/770
https://oist.repo.nii.ac.jp/records/770a1bee1c5-a5b5-4b60-8537-fc36cae7dd5c
名前 / ファイル | ライセンス | アクション |
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Luisier-2018-Intron retention and nuclear loss (8.4 MB)
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Creative Commons
Attribution 4.0 International (https://creativecommons.org/licenses/by/4.0/) |
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-12-07 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者(英) |
Luisier, Raphaelle
× Luisier, Raphaelle× Tyzack, Giulia E.× Hall, Claire E.× Mitchell, Jamie S.× Devine, Helen× Taha, Doaa M.× Malik, Bilal× Meyer, Ione× Greensmith, Linda× Newcombe, Jia× Ule, Jernej× Luscombe, Nicholas M.× Patani, Rickie |
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書誌情報 |
en : Nature Communications 巻 9, 号 1, 発行日 2018-05-22 |
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抄録 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Mutations causing amyotrophic lateral sclerosis (ALS) strongly implicate ubiquitously expressed regulators of RNA processing. To understand the molecular impact of ALS-causing mutations on neuronal development and disease, we analysed transcriptomes during in vitro differentiation of motor neurons (MNs) from human control and patient-specific VCP mutant induced-pluripotent stem cells (iPSCs). We identify increased intron retention (IR) as a dominant feature of the splicing programme during early neural differentiation. Importantly, IR occurs prematurely in VCP mutant cultures compared with control counterparts. These aberrant IR events are also seen in independent RNAseq data sets from SOD1- and FUS-mutant MNs. The most significant IR is seen in the SFPQ transcript. The SFPQ protein binds extensively to its retained intron, exhibits lower nuclear abundance in VCP mutant cultures and is lost from nuclei of MNs in mouse models and human sporadic ALS. Collectively, we demonstrate SFPQ IR and nuclear loss as molecular hallmarks of familial and sporadic ALS. | |||||
出版者 | ||||||
出版者 | Nature Research | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2041-1723 | |||||
PubMed番号 | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | info:pmid/29789581 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | info:doi/10.1038/s41467-018-04373-8 | |||||
権利 | ||||||
権利情報 | © 2018 The Author(s). | |||||
関連サイト | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://www.nature.com/articles/s41467-018-04373-8 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 |