Nature Communications (Nov 2021)
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies
- Aidan M. Fenix,
- Yuichiro Miyaoka,
- Alessandro Bertero,
- Steven M. Blue,
- Matthew J. Spindler,
- Kenneth K. B. Tan,
- Juan A. Perez-Bermejo,
- Amanda H. Chan,
- Steven J. Mayerl,
- Trieu D. Nguyen,
- Caitlin R. Russell,
- Paweena P. Lizarraga,
- Annie Truong,
- Po-Lin So,
- Aishwarya Kulkarni,
- Kashish Chetal,
- Shashank Sathe,
- Nathan J. Sniadecki,
- Gene W. Yeo,
- Charles E. Murry,
- Bruce R. Conklin,
- Nathan Salomonis
Affiliations
- Aidan M. Fenix
- Department of Laboratory Medicine and Pathology, University of Washington
- Yuichiro Miyaoka
- Regenerative Medicine Project, Tokyo Metropolitan Institute of Medical Science
- Alessandro Bertero
- Department of Laboratory Medicine and Pathology, University of Washington
- Steven M. Blue
- Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego
- Matthew J. Spindler
- Gladstone Institutes
- Kenneth K. B. Tan
- Gladstone Institutes
- Juan A. Perez-Bermejo
- Gladstone Institutes
- Amanda H. Chan
- Gladstone Institutes
- Steven J. Mayerl
- Gladstone Institutes
- Trieu D. Nguyen
- Gladstone Institutes
- Caitlin R. Russell
- Gladstone Institutes
- Paweena P. Lizarraga
- Gladstone Institutes
- Annie Truong
- Gladstone Institutes
- Po-Lin So
- Gladstone Institutes
- Aishwarya Kulkarni
- Department of Electrical Engineering and Computer Science, University of Cincinnati
- Kashish Chetal
- Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center
- Shashank Sathe
- Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego
- Nathan J. Sniadecki
- Department of Laboratory Medicine and Pathology, University of Washington
- Gene W. Yeo
- Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego
- Charles E. Murry
- Department of Laboratory Medicine and Pathology, University of Washington
- Bruce R. Conklin
- Gladstone Institutes
- Nathan Salomonis
- Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center
- DOI
- https://doi.org/10.1038/s41467-021-26623-y
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 14
Abstract
Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes. Mutant RBM20 showed different target RNA binding, altered splicing and localization to cytoplasmic processing bodies.
