Zoupa Maria, Seppala Maisa, Mitsiadis Thimios, Cobourne Martyn T
Department of Craniofacial Development, King's College London, GKT Dental Institute, Guy's Hospital, London, UK.
Int J Dev Biol. 2006;50(5):504-10. doi: 10.1387/ijdb.052116mz.
TBX1 encodes a T-box-containing transcription factor, which is thought to be a key player in the aetiology of the DiGeorge and Velocardiofacial syndromes (DGS/VCFS). In addition to defects affecting structures derived from the pharyngeal pouches, these patients exhibit varying degrees of facial dysmorphology and cleft palate. We have analysed the expression of murine Tbx1 during early facial development and found transcripts at sites of known epithelial-mesenchymal interaction. In particular, Tbx1 was expressed in epithelium of the early facial processes, including the fronto-nasal, medial and lateral nasal and palatine. Transcripts were also localised to the epithelium of developing tooth germs and hair follicles at several stages during their early development. Together, these expression domains suggest a role for Tbx1 in mediating epithelial-mesenchymal signalling in regions of the developing face, a finding which is consistent with the spectrum of facial deformity encountered amongst subjects affected by DGS/VCFS.
TBX1基因编码一种含T盒的转录因子，该因子被认为是迪乔治综合征和腭心面综合征（DGS/VCFS）病因中的关键因素。除了影响源自咽囊的结构的缺陷外，这些患者还表现出不同程度的面部畸形和腭裂。我们分析了小鼠Tbx1在早期面部发育过程中的表达情况，发现在已知上皮-间充质相互作用的部位有转录本。特别是，Tbx1在早期面部突起的上皮中表达，包括额鼻、鼻内侧和外侧以及腭部。在发育中的牙胚和毛囊早期发育的几个阶段，转录本也定位于其上皮。总之，这些表达区域表明Tbx1在介导发育中面部区域的上皮-间充质信号传导中发挥作用，这一发现与受DGS/VCFS影响的受试者中遇到的面部畸形谱一致。
