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Related Concept Videos

Sutures of the Skull01:22

Sutures of the Skull

The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...

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Method of Studying Palatal Fusion using Static Organ Culture
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MLL4 regulates postnatal palate growth and midpalatal suture development.

Jung-Mi Lee1, Hunmin Jung1, Bruno de Paula Machado Pasqua1

  • 1Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, Buffalo, NY 14214, U.S.A.

Biorxiv : the Preprint Server for Biology
|October 7, 2024
PubMed
Summary

MLL4 (KMT2D) is crucial for palate development. Its absence in mice causes midfacial defects and growth deficits by impairing midpalatal suture cartilage development.

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Area of Science:

  • Developmental Biology
  • Epigenetics
  • Craniofacial Development

Background:

  • MLL4 (KMT2D) is an epigenetic regulator vital for organogenesis.
  • Mutations in MLL4 cause Kabuki syndrome, characterized by craniofacial defects including palatal anomalies.

Purpose of the Study:

  • To investigate the role of MLL4 in palate development and growth.
  • To elucidate the molecular mechanisms underlying MLL4's function in the palate.

Main Methods:

  • Generated a conditional knockout mouse model with MLL4 deletion in palatal mesenchyme.
  • Utilized micro-CT, histology, gene expression profiling, and immunofluorescence.
  • Analyzed palate development from perinatal stages to adulthood.

Main Results:

  • Mll4-cKO mice exhibited midfacial hypoplasia and palatal midline defects (widened suture, disrupted rugae).
  • A transverse growth deficit in palate width was observed.
  • Defects included increased apoptosis in the midpalatal suture mesenchyme and impaired chondrogenesis (decreased COL2A1, SOX9).

Conclusions:

  • MLL4 is essential for proper midpalatal suture development and overall palate growth.
  • MLL4 regulates the expression of key cartilage development genes.
  • This study highlights MLL4's critical role in orchestrating cellular and molecular events for normal palate formation.