ArticleHuman molecular genetics2015
The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.Human reproduction (Oxford, England) · 2018Pooled it
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- Identifying a Common Autoimmune Gene Core as a Tool for Verifying Biological Significance and Applicability of Polygenic Risk Scores.International journal of molecular sciences · 2026Article
- Cardioprotective role of RBFox1 in myocardial infarction-induced heart failure.Cardiovascular research · 2025Article
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- Metastatic organotropism in small cell lung cancer.bioRxiv : the preprint server for biology · 2025Article
- The 1000 Chinese Indigenous Pig Genomes Project provides insights into the genomic architecture of pigs.Nature communications · 2024Article
- CWF19L2 is Essential for Male Fertility and Spermatogenesis by Regulating Alternative Splicing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Rbfox1 controls alternative splicing of focal adhesion genes in cardiac muscle cells.Journal of molecular cell biology · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- Overexpression of theAnimals : an open access journal from MDPI · 2023Article
- Alternative splicing diversifies the skeletal muscle transcriptome during prolonged spaceflight.Skeletal muscle · 2022Article
- Rbfox1 is required for myofibril development and maintaining fiber type-specific isoform expression inLife science alliance · 2022Article
- Robust and annotation-free analysis of alternative splicing across diverse cell types in mice.eLife · 2022Article
- The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.International journal of molecular sciences · 2022Article
- Modulation of Plasma Proteomic Profile by Regular Training in Male and Female Basketball Players: A Preliminary Study.Frontiers in physiology · 2022Article
- CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis.Human molecular genetics · 2021Article
- RBFOX splicing factors contribute to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus.Genome research · 2021Article
- Ischemic heart injury leads to HIF1-dependent differential splicing of CaMK2γ.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The Rbfox family of RNA-binding proteins is highly conserved with established roles in alternative splicing (AS) regulation. High-throughput studies aimed at understanding transcriptome remodeling have revealed skeletal muscle as displaying one of the largest number of AS events. This finding is consistent with requirements for tissue-specific protein isoforms needed to sustain muscle-specific functions. Rbfox1 is abundant in vertebrate brain, heart and skeletal muscle. Genome-wide genetic approaches have linked the Rbfox1 gene to autism, and a brain-specific knockout mouse revealed a critical role for this splicing regulator in neuronal function. Moreover, a Caenorhabditis elegans Rbfox1 homolog regulates muscle-specific splicing. To determine the role of Rbfox1 in muscle function, we developed a conditional knockout mouse model to specifically delete Rbfox1 in adult tissue. We show that Rbfox1 is required for muscle function but a >70% loss of Rbfox1 in satellite cells does not disrupt muscle regeneration. Deep sequencing identified aberrant splicing of multiple genes including those encoding myofibrillar and cytoskeletal proteins, and proteins that regulate calcium handling. Ultrastructure analysis of Rbfox1(-/-) muscle by electron microscopy revealed abundant tubular aggregates. Immunostaining showed mislocalization of the sarcoplasmic reticulum proteins Serca1 and Ryr1 in a pattern indicative of colocalization with the tubular aggregates. Consistent with mislocalization of Serca1 and Ryr1, calcium handling was drastically altered in Rbfox1(-/-) muscle. Moreover, muscle function was significantly impaired in Rbfox1(-/-) muscle as indicated by decreased force generation. These results demonstrate that Rbfox1 regulates a network of AS events required to maintain multiple aspects of muscle physiology.
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