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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

A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice

http://hdl.handle.net/20.500.12000/48368
http://hdl.handle.net/20.500.12000/48368
8b1ce7e8-3193-4862-bdb3-5d8f56c7e436
名前 / ファイル ライセンス アクション
s41598-020-74800-8.pdf s41598-020-74800-8.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 A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice
言語 en
作成者 Ihara, Kensuke

× Ihara, Kensuke

en Ihara, Kensuke

Sasano, Tetsuo

× Sasano, Tetsuo

en Sasano, Tetsuo

Hiraoka, Yuichi

× Hiraoka, Yuichi

en Hiraoka, Yuichi

Togo-Ohno, Marina

× Togo-Ohno, Marina

en Togo-Ohno, Marina

Soejima, Yurie

× Soejima, Yurie

en Soejima, Yurie

Sawabe, Motoji

× Sawabe, Motoji

en Sawabe, Motoji

Tsuchiya, Megumi

× Tsuchiya, Megumi

en Tsuchiya, Megumi

Ogawa, Hidesato

× Ogawa, Hidesato

en Ogawa, Hidesato

Furukawa, Tetsushi

× Furukawa, Tetsushi

en Furukawa, Tetsushi

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) 2020
内容記述
内容記述タイプ Other
内容記述 Dilated cardiomyopathy (DCM) is a fatal heart disease characterized by left ventricular dilatation and cardiac dysfunction. Recent genetic studies on DCM have identified causative mutations in over 60 genes, including RBM20, which encodes a regulator of heart-specific splicing. DCM patients with RBM20 mutations have been reported to present with more severe cardiac phenotypes, including impaired cardiac function, atrial fibrillation (AF), and ventricular arrhythmias leading to sudden cardiac death, compared to those with mutations in the other genes. An RSRSP stretch of RBM20, a hotspot of missense mutations found in patients with idiopathic DCM, functions as a crucial part of its nuclear localization signals. However, the relationship between mutations in the RSRSP stretch and cardiac phenotypes has never been assessed in an animal model. Here, we show that Rbm20 mutant mice harboring a missense mutation S637A in the RSRSP stretch, mimicking that in a DCM patient, demonstrated severe cardiac dysfunction and spontaneous AF and ventricular arrhythmias mimicking the clinical state in patients. In contrast, Rbm20 mutant mice with frame-shifting deletion demonstrated less severe phenotypes, although loss of RBM20-dependent alternative splicing was indistinguishable. RBM20^<S637A> protein cannot be localized to the nuclear speckles, but accumulated in cytoplasmic, perinuclear granule-like structures in cardiomyocytes, which might contribute to the more severe cardiac phenotypes.
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/20.500.12000/48368
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/s41598-020-74800-8
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-020-74800-8
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
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