Article
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Nature medicine - 1 May 2012
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, Özcelik Cemil, Saar Kathrin, Hubner Norbert, Gotthardt Michael
Abstract excerpt
Alternative splicing has a major role in cardiac adaptive responses, as exemplified by the isoform switch of the sarcomeric protein titin, which adjusts ventricular filling. By positional cloning using a previously characterized rat strain with altered titin mRNA splicing, we identified a loss-of-function mutation in the gene encoding RNA binding motif protein 20 (Rbm20) as the underlying cause of pathological...
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