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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization

http://hdl.handle.net/20.500.12000/48366
http://hdl.handle.net/20.500.12000/48366
f25d7846-a5a0-4206-9ef6-22f5c1656f7c
名前 / ファイル ライセンス アクション
s41598-018-26624-w.pdf s41598-018-26624-w.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2021-04-27
タイトル
タイトル Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
言語 en
作成者 Murayama, Rie

× Murayama, Rie

en Murayama, Rie

Kimura-Asami, Mariko

× Kimura-Asami, Mariko

en Kimura-Asami, Mariko

Togo-Ohno, Marina

× Togo-Ohno, Marina

en Togo-Ohno, Marina

Yamasaki-Kato, Yumiko

× Yamasaki-Kato, Yumiko

en Yamasaki-Kato, Yumiko

Naruse, Taeko K.

× Naruse, Taeko K.

en Naruse, Taeko K.

Yamamoto, Takeshi

× Yamamoto, Takeshi

en Yamamoto, Takeshi

Hayashi, Takeharu

× Hayashi, Takeharu

en Hayashi, Takeharu

Ai, Tomohiko

× Ai, Tomohiko

en Ai, Tomohiko

Spoonamore, Katherine G.

× Spoonamore, Katherine G.

en Spoonamore, Katherine G.

Kovacs, Richard J.

× Kovacs, Richard J.

en Kovacs, Richard J.

Vatta, Matteo

× Vatta, Matteo

en Vatta, Matteo

Iizuka, Mai

× Iizuka, Mai

en Iizuka, Mai

Saito, Masumi

× Saito, Masumi

en Saito, Masumi

Wani, Shotaro

× Wani, Shotaro

en Wani, Shotaro

Hiraoka, Yuichi

× Hiraoka, Yuichi

en Hiraoka, Yuichi

Kimura, Akinori

× Kimura, Akinori

en Kimura, Akinori

Kuroyanagi, Hidehito

× Kuroyanagi, Hidehito

en Kuroyanagi, Hidehito

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 ja
権利情報 © The Author(s) 2018
内容記述
内容記述タイプ Other
内容記述 RBM20 is a major regulator of heart-specific alternative pre-mRNA splicing of TTN encoding a giant sarcomeric protein titin. Mutation in RBM20 is linked to autosomal-dominant familial dilated cardiomyopathy (DCM), yet most of the RBM20 missense mutations in familial and sporadic cases were mapped to an RSRSP stretch in an arginine/serine-rich region of which function remains unknown. In the present study, we identified an R634W missense mutation within the stretch and a G1031X nonsense mutation in cohorts of DCM patients. We demonstrate that the two serine residues in the RSRSP stretch are constitutively phosphorylated and mutations in the stretch disturb nuclear localization of RBM20. Rbm20^<S637A> knock-in mouse mimicking an S635A mutation reported in a familial case showed a remarkable effect on titin isoform expression like in a patient carrying the mutation. These results revealed the function of the RSRSP stretch as a critical part of a nuclear localization signal and offer the Rbm20^<S637A> mouse as a good model for in vivo study.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/48366
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-018-26624-w
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-018-26624-w
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2045-2322
収録物名
言語 en
収録物名 Scientific Reports
書誌情報
巻 8, 発行日 2018-07-12
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