TGF-beta signaling and aplasia cutis congenita: proposed animal model.

TGF-beta plays a role in cell migration, proliferation, and differentiation during embryonic development. This study investigated the effect of neural crest- or mesodermspecific loss of TGF-beta type II receptor in mice. These conditional knockout mice both exhibit skin defects of the skull associated with an underlying bone defect, a phenotype consistent with the human disorder aplasia cutis congenita.

TGF-beta mediated Msx2 expression controls occipital somites-derived caudal region of skull development.

Craniofacial development involves cranial neural crest (CNC) and mesoderm-derived cells. TGF-beta signaling plays a critical role in instructing CNC cells to form the craniofacial skeleton. However, it is not known how TGF-beta signaling regulates the fate of mesoderm-derived cells during craniofacial development.