RNA-binding protein 20

Definition:

RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH. Acts as a repressor of mRNA splicing: specifically binds the 5'UCUU-3' motif that is predominantly found within intronic sequences of pre-mRNAs, leading to the exclusion of specific exons in target transcripts. RBM20-mediated exon skipping is hormone-dependent and is essential for TTN isoform transition in both cardiac and skeletal muscles. RBM20-mediated exon skipping of TTN provides substrates for the formation of circular RNA (circRNAs) from the TTN transcripts. Together with RBM24, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity).

References:

[1]. Wei Guo, et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med. 2012 May;18(5):766-73. [Content Brief]

[2]. Mohsin A F Khan, et al. RBM20 Regulates Circular RNA Production From the Titin Gene. Circ Res. 2016 Oct 14;119(9):996-1003. [Content Brief]

[3]. Anna Gaertner, et al. Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20. Hum Mutat. 2020 Nov;41(11):1931-1943. [Content Brief]

[4]. Henrike Maatz, et al. RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. J Clin Invest. 2014 Aug;124(8):3419-30. [Content Brief]

[5]. Alessandro Bertero, et al. Dynamics of genome reorganization during human cardiogenesis reveal an RBM20-dependent splicing factory. Nat Commun. 2019 Apr 4;10(1):1538. [Content Brief]

[6]. Rie Murayama, et al. Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. Sci Rep. 2018 Jun 12;8(1):8970. [Content Brief]

[7]. Saranya P Wyles, et al. Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. Hum Mol Genet. 2016 Jan 15;25(2):254-65. [Content Brief]

[8]. Carlos Henrique Vieira-Vieira, et al. Proteome-wide quantitative RNA-interactome capture identifies phosphorylation sites with regulatory potential in RBM20. Mol Cell. 2022 Jun 2;82(11):2069-2083.e8. [Content Brief]

[9]. Aidan M Fenix, et al. Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies. Nat Commun. 2021 Nov 3;12(1):6324. [Content Brief]

[10]. Abdelaziz Beqqali, et al. A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. Cardiovasc Res. 2016 Oct;112(1):452-63. [Content Brief]

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