ArticleMechanisms of development
SOX2 hypomorphism disrupts development of the prechordal floor and optic cup.
Article in Mechanisms of development. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 25 citations in OpenAlex.
- A Sox2 enhancer cluster regulates region-specific neural fates from mouse embryonic stem cells.G3 (Bethesda, Md.) · 2025Article
- RNA Binding Properties of SOX Family Members.Cells · 2024Article
- Transgenic models for investigating the nervous system: Currently available neurofluorescent reporters and potential neuronal markers.Biochimica et biophysica acta. General subjects · 2020Review
- Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.Human genetics · 2019Review
- Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus.Development (Cambridge, England) · 2018Article
- Ophthalmic clues to the endocrine disorders.Journal of endocrinological investigation · 2017Review
- The Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6.PLoS genetics · 2016Article
- Sox2-Deficient Müller Glia Disrupt the Structural and Functional Maturation of the Mammalian Retina.Investigative ophthalmology & visual science · 2016Article
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Cleft Palate in a Mouse Model of SOX2 Haploinsufficiency.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2014Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Haploinsufficiency for the HMG-box transcription factor SOX2 results in abnormalities of the human ventral forebrain and its derivative structures. These defects include anophthalmia (absence of eye), microphthalmia (small eye) and hypothalamic hamartoma (HH), an overgrowth of the ventral hypothalamus. To determine how Sox2 deficiency affects the morphogenesis of the ventral diencephalon and eye, we generated a Sox2 allelic series (Sox2(IR), Sox2(LP), and Sox2(EGFP)), allowing for the generation of mice that express germline hypomorphic levels (<40%) of SOX2 protein and that faithfully recapitulate SOX2 haploinsufficient human phenotypes. We find that Sox2 hypomorphism significantly disrupts the development of the posterior hypothalamus, resulting in an ectopic protuberance of the prechordal floor, an upregulation of Shh signaling, and abnormal hypothalamic patterning. In the anterior diencephalon, both the optic stalks and optic cups (OC) of Sox2 hypomorphic (Sox2(HYP)) embryos are malformed. Furthermore, Sox2(HYP) eyes exhibit a loss of neural potential and coloboma, a common phenotype in SOX2 haploinsufficient humans that has not been described in a mouse model of SOX2 deficiency. These results establish for the first time that germline Sox2 hypomorphism disrupts the morphogenesis and patterning of the hypothalamus, optic stalk, and the early OC, establishing a model of the development of the abnormalities that are observed in SOX2 haploinsufficient humans.
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