ArticlePLoS genetics2014
The candidate splicing factor Sfswap regulates growth and patterning of inner ear sensory organs.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 33 citations in OpenAlex.
- SFRS8 Regulates Memory by Modulating RNA Splicing of Synaptic Genes.Molecular neurobiology · 2025Article
- Knockout ofBiomedicines · 2024Article
- Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States.Molecular systems biology · 2024Review
- Integrated scRNAseq analyses of mouse cochlear supporting cells reveal the involvement of Ezh2 in hair cell regeneration.Molecular biology reports · 2024Article
- Identification of mitophagy-related biomarkers in human osteoporosis based on a machine learning model.Frontiers in physiology · 2023Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- An optimized method for high-quality RNA extraction from distinctive intrinsic laryngeal muscles in the rat model.Scientific reports · 2022Article
- Emerging Roles of RNA-Binding Proteins in Inner Ear Hair Cell Development and Regeneration.International journal of molecular sciences · 2022Review
- Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations.Scientific reports · 2022Article
- Splicing factor arginine/serine-rich 8 promotes multiple myeloma malignancy and bone lesion through alternative splicing of CACYBP and exosome-based cellular communication.Clinical and translational medicine · 2022Article
- Inhibition of a transcriptional repressor rescues hearing in a splicing factor-deficient mouse.Life science alliance · 2020Article
- A novel prognostic model based on multi-omics features predicts the prognosis of colon cancer patients.Molecular genetics & genomic medicine · 2020Article
- Rbm24a Is Necessary for Hair Cell Development Through Regulating mRNA Stability in Zebrafish.Frontiers in cell and developmental biology · 2020Article
- Alternative Splicing ofNeural plasticity · 2020Article
- Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot.Journal of molecular medicine (Berlin, Germany) · 2019Article
- Sox2 and FGF20 interact to regulate organ of Corti hair cell and supporting cell development in a spatially-graded manner.PLoS genetics · 2019Article
- Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.Frontiers in genetics · 2018Review
- Nuclear receptor/Wnt beta-catenin interactions are regulated via differential CBP/p300 coactivator usage.PloS one · 2018Article
- ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.Developmental cell · 2017Article
- Angulin proteins ILDR1 and ILDR2 regulate alternative pre-mRNA splicing through binding to splicing factors TRA2A, TRA2B, or SRSF1.Scientific reports · 2017Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
The Notch signaling pathway is thought to regulate multiple stages of inner ear development. Mutations in the Notch signaling pathway cause disruptions in the number and arrangement of hair cells and supporting cells in sensory regions of the ear. In this study we identify an insertional mutation in the mouse Sfswap gene, a putative splicing factor, that results in mice with vestibular and cochlear defects that are consistent with disrupted Notch signaling. Homozygous Sfswap mutants display hyperactivity and circling behavior consistent with vestibular defects, and significantly impaired hearing. The cochlea of newborn Sfswap mutant mice shows a significant reduction in outer hair cells and supporting cells and ectopic inner hair cells. This phenotype most closely resembles that seen in hypomorphic alleles of the Notch ligand Jagged1 (Jag1). We show that Jag1; Sfswap compound mutants have inner ear defects that are more severe than expected from simple additive effects of the single mutants, indicating a genetic interaction between Sfswap and Jag1. In addition, expression of genes involved in Notch signaling in the inner ear are reduced in Sfswap mutants. There is increased interest in how splicing affects inner ear development and function. Our work is one of the first studies to suggest that a putative splicing factor has specific effects on Notch signaling pathway members and inner ear development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.