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Sox2 Controls Periderm and Rugae Development to Inhibit Oral Adhesions.

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  • 1Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, IA, USA.

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|July 18, 2020
PubMed
Summary
This summary is machine-generated.

The Sry (sex-determining region Y)-box 2 (Sox2) gene is crucial for preventing oral adhesions and cleft palate. Its inactivation in developing oral epithelium leads to these congenital craniofacial anomalies in mouse models.

Keywords:
ankyloglossiacleft palatecraniofacial anomalyoral epitheliumpalate rugaetooth agenesis

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Area of Science:

  • Developmental Biology
  • Genetics
  • Craniofacial Development

Background:

  • Ankyloglossia and cleft palate are common congenital craniofacial anomalies in humans.
  • These conditions arise from complex gene regulatory networks, and understanding their genetic basis is key for effective treatment.

Purpose of the Study:

  • To investigate the role of the Sry (sex-determining region Y)-box 2 (Sox2) gene in the development of oral epithelium and its impact on craniofacial anomalies.
  • To elucidate the genetic mechanisms underlying ankyloglossia and cleft palate.

Main Methods:

  • Conditional inactivation of the Sox2 gene in the developing oral epithelium, including the periderm, of mouse embryos.
  • Analysis of embryonic development, epithelial differentiation markers (keratin 6, E-Cad, P63), and expression of dental epithelium markers (Sox9, Pitx2, Tbx1).

Main Results:

  • Sox2 inactivation resulted in 100% penetrance of ankyloglossia and cleft palate in examined embryos.
  • Oral epithelium failed to differentiate, indicated by a lack of keratin 6. Oral adhesions involved epithelial markers E-Cad and P63.
  • Expanded dental epithelium (Sox9, Pitx2, Tbx1 positive) contributed to oral adhesions, inhibiting incisor development and invagination.

Conclusions:

  • Sox2 is essential for periderm formation, which prevents oral adhesions and ankyloglossia.
  • Sox2 is required for palatal shelf extension and palatal rugae formation, crucial for normal palatogenesis.
  • Disruption of Sox2 in oral epithelium leads to ankyloglossia, cleft palate, and potential dental anomalies due to altered dental epithelium development.