Abstract
In humans, mutations of the gene encoding for thyroid transcription factor-2 (TTF-2 or FOXE1) result in Bamforth syndrome. Bamforth syndrome is characterized by agenesis, cleft palate, spiky hair and choanal atresia. TTF-2 null mice (TTF-2−/−) also exhibit cleft palate, suggesting its involvement in the palatogenesis. However, the molecular pathology and genetic regulation by TTF2 remain largely unknown. In the present study, the recombinant expression vector pBROAD3-TTF-2 containing the promoter of the mouse ROSA26 gene was created to form the structural gene of mouse TTF-2 and was microinjected into the male pronuclei of fertilized ova. Sequence analysis confirmed that the TTF-2 transgenic mouse model was established successfully. The transgenic mice displayed a phenotype of cleft palate. In addition, we found that TTF-2 was highly expressed in the medial edge epithelium (MEE) from the embryonic day 12.5 (E12.5) to E14.5 in TTF-2 transgenic mice. These observations suggest that overexpression of TTF-2 during palatogenesis may contribute to formation of cleft palate.
Highlights
The formation of the secondary palate in mammals involves the orchestration of several processes to produce the correct separation of the oral and nasal cavities
Mutations in genes are associated with regulating growth, differentiation, and epithelial-mesenchymal transformation (EMT) during the palatogenesis process, both in humans and in mouse models, all contributing to the formation of a cleft palate [28,29,30]
Transgenic mice are frequently used to create animal models to study the pathogenesis of human diseases
Summary
The formation of the secondary palate (palatogenesis) in mammals involves the orchestration of several processes to produce the correct separation of the oral and nasal cavities. Failure of palatogenesis results in cleft palate, one of the most common birth defects in humans [1]. During the initial stage of the fusion process, the epithelia covering the tip of each palatal shelf (MEE) adhere to form a midline epithelial seam (MES) [1]. The MES disappear through the combination of programmed cell death [2,3,4], epithelial-mesenchymal transformation (EMT) [5,6,7] and migration to the oral and nasal palatal epithelia [8]. Failure of any of these processes can result in isolated cleft palate
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