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Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development
Takuya Ogawa1, Hitesh Kapadia, Jian Q Feng
1Department of Orthodontics, University of Texas Health Science Center at Houston-Dental Branch, Houston, Texas 77030, USA.
The Journal of Biological Chemistry
|May 3, 2006
Summary
Pax9 and Msx1 transcription factors regulate tooth development by controlling Bmp4 expression. A mutation in Pax9 disrupts this partnership, impairing tooth morphogenesis and leading to tooth agenesis.
Area of Science:
- Developmental Biology
- Molecular Biology
- Genetics
Background:
- Pax9 and Msx1 are key transcription factors in tooth development.
- They are crucial for the shift in odontogenic potential and mesenchymal Bmp4 expression, driving dental organ morphogenesis.
Purpose of the Study:
- To investigate the regulatory relationship between Pax9 and Msx1 in tooth development.
- To determine the functional impact of a specific Pax9 mutation (T62C) linked to human tooth agenesis.
Main Methods:
- Analysis of direct transcriptional regulation of Msx1 by Pax9.
- Protein-protein interaction studies between Pax9 and Msx1.
- Assessment of transactivation capabilities of wild-type and mutant Pax9 on Msx1 and Bmp4 promoters.
- Investigating the role of the paired domain in Pax9 function.
Main Results:
- Pax9 directly regulates Msx1 and forms a complex with Msx1 to enhance transactivation of Msx1 and Bmp4.
- A mutation in the Pax9 paired domain (L21P) prevents transactivation of Msx1 and Bmp4 promoters, despite retaining Msx1 binding.
- Synergistic activation of the Bmp4 promoter by Pax9 and Msx1 is abolished with the mutant Pax9.
Conclusions:
- Pax9 and Msx1 form a partnership in a Bmp4-mediated signaling pathway essential for tooth development.
- Pax9's paired domain is critical for regulating Bmp4 expression, highlighting its role in the bud to cap stage transition.
- The studied Pax9 mutation disrupts this regulatory complex, explaining its association with tooth agenesis.
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