The International Journal of Developmental Biology

Int. J. Dev. Biol. 50: 504 - 510 (2006)

Vol 50, Issue 5

Tbx1 is expressed at multiple sites of epithelial-mesenchymal interaction during early development of the facial complex

Developmental Expression Pattern | Published: 1 April 2006

Maria Zoupa1, Maisa Seppala1, Thimios Mitsiadis1 and Martyn T. Cobourne*,2

1Department of Craniofacial Development and 2Department of Orthodontics and Craniofacial Development, King's College London, GKT Dental Institute, Guy's Hospital, London, UK


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, facial development, tooth morphogenesis, hair follicle morphogenesis

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