ArticlePLoS genetics2014
Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.
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 37 papers.
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Who cites it
37 citing papers in PubMed, 61 citations in OpenAlex.
- Article
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- Stem cell culture conditions affect in vitro differentiation potential and mouse gastruloid formation.PloS one · 2025Article
- miR-26 Deficiency Causes Alterations in Lens Transcriptome and Results in Adult-Onset Cataract.Investigative ophthalmology & visual science · 2024Article
- miR-26 deficiency causes alterations in lens transcriptome and results in adult-onset cataract.bioRxiv : the preprint server for biology · 2024Article
- Spatiotemporal Localisation of Heparan Sulphate Proteoglycans throughout Mouse Lens Morphogenesis.Cells · 2023Article
- Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- An Overview towards Zebrafish Larvae as a Model for Ocular Diseases.International journal of molecular sciences · 2023Review
- Novel Variants ofInternational journal of molecular sciences · 2023Article
- Sox11b regulates the migration and fate determination of Müller glia-derived progenitors during retina regeneration in zebrafish.Neural regeneration research · 2023Article
- A comparative analysis of gene and protein expression in chronic and acute models of photoreceptor degeneration in adult zebrafish.Frontiers in cell and developmental biology · 2023Article
- Generation of a zebrafish knock-in line expressing MYC-tagged Sox11a using CRISPR/Cas9 genome editing.Biochemical and biophysical research communications · 2022Article
- SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.Journal of developmental biology · 2020Review
- Dual SMAD inhibition and Wnt inhibition enable efficient and reproducible differentiations of induced pluripotent stem cells into retinal ganglion cells.Scientific reports · 2020Article
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- Ubiquitin-mediated proteasome degradation regulates optic fissure fusion.Biology open · 2019Article
- Hedgehog signaling regulates cell motility and optic fissure and stalk formation during vertebrate eye morphogenesis.Development (Cambridge, England) · 2018Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently associated with additional anomalies, including microphthalmia and cataracts. Although Hedgehog signaling is known to play a critical role in choroid fissure closure, genetic regulation of this pathway remains poorly understood. Here, we show that the transcription factor Sox11 is required to maintain specific levels of Hedgehog signaling during ocular development. Sox11-deficient zebrafish embryos displayed delayed and abnormal lens formation, coloboma, and a specific reduction in rod photoreceptors, all of which could be rescued by treatment with the Hedgehog pathway inhibitor cyclopamine. We further demonstrate that the elevated Hedgehog signaling in Sox11-deficient zebrafish was caused by a large increase in shha transcription; indeed, suppressing Shha expression rescued the ocular phenotypes of sox11 morphants. Conversely, over-expression of sox11 induced cyclopia, a phenotype consistent with reduced levels of Sonic hedgehog. We screened DNA samples from 79 patients with microphthalmia, anophthalmia, or coloboma (MAC) and identified two novel heterozygous SOX11 variants in individuals with coloboma. In contrast to wild type human SOX11 mRNA, mRNA containing either variant failed to rescue the lens and coloboma phenotypes of Sox11-deficient zebrafish, and both exhibited significantly reduced transactivation ability in a luciferase reporter assay. Moreover, decreased gene dosage from a segmental deletion encompassing the SOX11 locus resulted in microphthalmia and related ocular phenotypes. Therefore, our study reveals a novel role for Sox11 in controlling Hedgehog signaling, and suggests that SOX11 variants contribute to pediatric eye disorders.
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