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Updated: Jun 5, 2026

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Published on: August 3, 2018
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1
Isabella Venza1, Maria Visalli, Luca Parrillo
1Department of Surgical Specialities, University of Messina, Italy.
Forkhead box E1 (FOXE1) mutations cause Bamforth-Lazarus syndrome. This study reveals FOXE1 directly regulates MSX1 and TGF-β3, crucial for craniofacial development and cleft palate.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- FOXE1 mutations cause Bamforth-Lazarus syndrome, affecting thyroid and craniofacial development.
- The role of FOXE1 in craniofacial development beyond thyroid regulation is largely unknown.
Purpose of the Study:
- Investigate FOXE1's role in craniofacial development.
- Determine if FOXE1 mutations contribute to cleft palate in Bamforth-Lazarus syndrome.
Main Methods:
- Analyzed MSX1 and TGF-β3 gene expression in response to FOXE1.
- Examined FOXE1 binding to MSX1 and TGF-β3 promoters.
- Studied gene expression in Foxe1 knockout mouse models.
Main Results:
- FOXE1 directly up-regulates MSX1 and TGF-β3 at transcriptional and translational levels.
- FOXE1 mutations impair its ability to transactivate MSX1 and TGF-β3 promoters.
- Absence of MSX1 and TGF-β3 mRNA in palatal shelves of Foxe1 knockout mice.
Conclusions:
- FOXE1 is a direct regulator of MSX1 and TGF-β3, essential for craniofacial development.
- FOXE1 dysfunction contributes to cleft palate in Bamforth-Lazarus syndrome.
- Provides new insights into the genetic basis of facial defects associated with the syndrome.
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