RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

被引：0

作者：

Wei Guo

Sebastian Schafer

Marion L Greaser

Michael H Radke

Martin Liss

Thirupugal Govindarajan

Henrike Maatz

Herbert Schulz

Shijun Li

Amanda M Parrish

Vita Dauksaite

Padmanabhan Vakeel

Sabine Klaassen

Brenda Gerull

Ludwig Thierfelder

Vera Regitz-Zagrosek

Timothy A Hacker

Kurt W Saupe

G William Dec

Patrick T Ellinor

Calum A MacRae

Bastian Spallek

Robert Fischer

Andreas Perrot

Cemil Özcelik

Kathrin Saar

Norbert Hubner

Michael Gotthardt

机构：

[1] Muscle Biology Laboratory,Department of Medicine

[2] University of Wisconsin Madison,Cardiology Division

[3] Cardiovascular and Metabolic Sciences,Department of Cardiology (Campus Virchow Klinikum)

[4] Max Delbrück Center for Molecular Medicine,undefined

[5] Neuromuscular and Cardiovascular Cell Biology,undefined

[6] Max Delbrück Center for Molecular Medicine,undefined

[7] Cardiovascular Molecular Genetics,undefined

[8] Max Delbrück Center for Molecular Medicine,undefined

[9] Institute of Gender in Medicine and Center for Cardiovascular Research,undefined

[10] Charité,undefined

[11] University Medicine Berlin,undefined

[12] University of Wisconsin Madison,undefined

[13] Massachusetts General Hospital,undefined

[14] Universitätskilikum Benjamin Franklin,undefined

[15] Charité,undefined

[16] University Medicine Berlin,undefined

[17] Charité University Medicine Berlin,undefined

来源：

Nature Medicine | 2012年 / 18卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Alternative splicing affects the function of many cardiac proteins, including that of the sarcomeric protein titin. Wei Guo et al. now show that the gene RBM20, previously identified as mutated in some individuals with dilated cardiomyopathy, is a splicing factor that regulates the alternative splicing of the gene encoding titin and many other key cardiac genes.

引用

页码：766 / 773

页数：7

共 50 条

[1] RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
Guo, Wei
Schafer, Sebastian
Greaser, Marion L.
Radke, Michael H.
Liss, Martin
Govindarajan, Thirupugal
Maatz, Henrike
Schulz, Herbert
Li, Shijun
Parrish, Amanda M.
Dauksaite, Vita
Vakeel, Padmanabhan
Klaassen, Sabine
Gerull, Brenda
Thierfelder, Ludwig
Regitz-Zagrosek, Vera
Hacker, Timothy A.
Saupe, Kurt W.
Dec, G. William
Ellinor, Patrick T.
MacRae, Calum A.
Spallek, Bastian
Fischer, Robert
Perrot, Andreas
Oezcelik, Cemil
Saar, Kathrin
Hubner, Norbert
Gotthardt, Michael
[J]. NATURE MEDICINE, 2012, 18 (05) : 766 - U162
[2] Rbm20 regulates titin alternative splicing as a splicing repressor
Li, Shijun
Guo, Wei
Dewey, Colin N.
Greaser, Marion L.
[J]. NUCLEIC ACIDS RESEARCH, 2013, 41 (04) : 2659 - 2672
[3] The skeletal muscle circadian clock regulates titin splicing through RBM20
Riley, Lance A.
Zhang, Xiping
Douglas, Collin M.
Mijares, Joseph M.
Hammers, David W.
Wolff, Christopher A.
Wood, Neil B.
Olafson, Hailey R.
Du, Ping
Labeit, Siegfried
Previs, Michael J.
Wang, Eric T.
Esser, Karyn A.
[J]. ELIFE, 2022, 11
[4] RBM20 Regulates Circular RNA Production From the Titin Gene
Khan, Mohsin A. F.
Reckman, Yolan J.
Aufiero, Simona
van den Hoogenhof, Maarten M. G.
van der Made, Ingeborg
Beqqali, Abdelaziz
Koolbergen, Dave R.
Rasmussen, Torsten B.
van der Velden, Jolanda
Creemers, Esther E.
Pinto, Yigal M.
[J]. CIRCULATION RESEARCH, 2016, 119 (09) : 996 - 1003
[5] Alternative Splicing Regulator RBM20 and Cardiomyopathy
Watanabe, Takeshi
Kimura, Akinori
Kuroyanagi, Hidehito
[J]. FRONTIERS IN MOLECULAR BIOSCIENCES, 2018, 5
[6] Splicing Factor RBM20 Regulates Transcriptional Network of Titin Associated and Calcium Handling Genes in The Heart
Guo, Wei
Zhu, Chaoqun
Yin, Zhiyong
Wang, Qiurong
Sun, Mingming
Cao, Huojun
Greaser, Marion L.
[J]. INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2018, 14 (04): : 369 - +
[7] RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy
Dai, Jiaqi
Li, Zongzhe
Huang, Wei
Chen, Peng
Sun, Yang
Wang, Hong
Wu, Dongyang
Chen, Yanghui
Li, Chenze
Xiao, Lei
Liu, Hao
Wei, Haoran
Li, Rui
Duan, Quanlu
Peng, Liyuan
Song, Xiuli
Yu, Ting
Wang, Yan
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[J]. CANADIAN JOURNAL OF CARDIOLOGY, 2021, 37 (11) : 1751 - 1759
[8] The RBM20 splicing target CAMK2D causes cardiac dysfunction in RBM20 cardiomyopathy
van den Hoogenhof, Maarten
Dewenter, Matthias
Sequeira, Vasco
Duran, Javier
Lennermann, David
Kemmling, Elena
Konrad, Laura
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Hartmann, Joshua
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[J]. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2022, 173 : S20 - S20
[9] RBM20 regulates muscle hypertrophy through titin and calcium signaling
Gao-Hu, Jeffrey S.
Guo, Wei
[J]. FASEB JOURNAL, 2022, 36
[10] Delineating RBM20 Regulation of Alternative Splicing in Dilated Cardiomyopathy
Arrell, D. Kent
[J]. CIRCULATION-CARDIOVASCULAR GENETICS, 2014, 7 (05) : 732 - 733

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