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The EMBO Journal
Article . 2004 . Peer-reviewed
License: Wiley TDM
Data sources: Crossref
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The EMBO Journal
Article
Data sources: UnpayWall
The EMBO Journal
Article . 2005
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Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart

Authors: Rui-Ping Xiao; Heping Cheng; Nancy D. Dalton; Ju Chen; Xiangdong Xu; Jian-Hua Ding; John Ross; +5 Authors

Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart

Abstract

Many genetic diseases are caused by mutations in cis-acting splicing signals, but few are triggered by defective trans-acting splicing factors. Here we report that tissue-specific ablation of the splicing factor SC35 in the heart causes dilated cardiomyopathy (DCM). Although SC35 was deleted early in cardiogenesis by using the MLC-2v-Cre transgenic mouse, heart development appeared largely unaffected, with the DCM phenotype developing 3-5 weeks after birth and the mutant animals having a normal life span. This nonlethal phenotype allowed the identification of downregulated genes by microarray, one of which was the cardiac-specific ryanodine receptor 2. We showed that downregulation of this critical Ca2+ release channel preceded disease symptoms and that the mutant cardiomyocytes exhibited frequency-dependent excitation-contraction coupling defects. The implication of SC35 in heart disease agrees with a recently documented link of SC35 expression to heart failure and interference of splicing regulation during infection by myocarditis-causing viruses. These studies raise a new paradigm for the etiology of certain human heart diseases of genetic or environmental origin that may be triggered by dysfunction in RNA processing.

Related Organizations
Keywords

Cardiomyopathy, Dilated, Mice, Knockout, Cell Death, Serine-Arginine Splicing Factors, Gene Expression Profiling, Myocardium, Down-Regulation, Nuclear Proteins, Heart, Ryanodine Receptor Calcium Release Channel, Myocardial Contraction, Mice, Animals, Newborn, Ribonucleoproteins, Mutation, Animals, Calcium, Myocytes, Cardiac, Cell Proliferation, Oligonucleotide Array Sequence Analysis

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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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    influence
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    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
132
Top 10%
Top 10%
Top 10%
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