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Isolation and Time-Lapse Imaging of Primary Mouse Embryonic Palatal Mesenchyme Cells to Analyze Collective Movement Attributes
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Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation
Yan Yan Sweat1, Mason Sweat1, Maurisa Mansaray1
1Department of Anatomy and Cell Biology and the Craniofacial Anomalies Research Center, The University of Iowa, Iowa City, IA, 52242, USA.
Developmental Biology
|November 26, 2019
Summary
Transcription factor Six2 is crucial for palate development, with Six2 null embryos showing a 22% cleft palate rate. Six2 regulates bone formation and activates Pax9 expression, impacting the gene regulatory network involved in palatogenesis.
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- The 2p21 locus is associated with clefting in humans.
- Transcription factors play key roles in embryonic development.
- Palatogenesis is a complex process involving multiple genetic factors.
Purpose of the Study:
- To investigate the role of the transcription factor Six2 in palate development.
- To understand the molecular mechanisms by which Six2 influences palatogenesis.
- To explore the relationship between Six2 and Pax9 in cleft palate formation.
Main Methods:
- Gene prediction using the SysFACE tool.
- Functional validation in Six2 null mouse embryos.
- Analysis of gene expression and protein interactions.
- Identification and characterization of a human SIX2 variant.
Main Results:
- Six2 null embryos exhibit a 22% incidence of cleft palate.
- Six2 promotes mesenchymal cell proliferation and regulates bone formation during palate development.
- Six2 directly binds to a PAX9 regulatory element and activates PAX9 expression.
- A human SIX2 variant (p.Gly264Glu) impairs Six2 protein stability and reduces PAX9 expression.
Conclusions:
- Six2 is a critical regulator of palatogenesis.
- Six2 functions in a genetic network with Pax9 to control palate development.
- Genetic variations in SIX2 may contribute to cleft palate in humans, potentially in conjunction with other genes.
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