| 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 |
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|
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
Kimura-Asami, Mariko
Togo-Ohno, Marina
Yamasaki-Kato, Yumiko
Naruse, Taeko K.
Yamamoto, Takeshi
Hayashi, Takeharu
Ai, Tomohiko
Spoonamore, Katherine G.
Kovacs, Richard J.
Vatta, Matteo
Iizuka, Mai
Saito, Masumi
Wani, Shotaro
Hiraoka, Yuichi
Kimura, Akinori
Kuroyanagi, Hidehito
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| アクセス権 |
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|
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 |
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|
言語 |
en |
|
権利情報 |
Creative Commons Attribution 4.0 |
| 権利情報 |
|
|
言語 |
ja |
|
権利情報 |
© The Author(s) 2018 |
| 権利情報 |
|
|
言語 |
en |
|
権利情報Resource |
http://creativecommons.org/licenses/by/4.0/ |
|
権利情報 |
http://creativecommons.org/licenses/by/4.0/ |
| 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 |
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内容記述タイプ |
Other |
|
内容記述 |
論文 |
| 出版者 |
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出版者 |
Springer Nature |
|
言語 |
en |
| 言語 |
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|
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 |
| 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 |
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|
識別子 |
http://hdl.handle.net/20.500.12000/48366 |
|
識別子タイプ |
HDL |
| 関連情報 |
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|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1038/s41598-018-26624-w |
| 関連情報 |
|
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|
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 |
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|
収録物名 |
Scientific Reports |
|
言語 |
en |
| 書誌情報 |
巻 8,
発行日 2018-07-12
|
s41598-018-26624-w.pdf
