Using the avian model talpid2 to study human craniofacial ciliopathies

talpid2 (ta2) is a naturally occurring avian ciliopathic mutant with a myriad of craniofacial defects, including a dysmorphic frontonasal prominence, facial clefting, hypoplastic maxillary prominences, incomplete fusion of the primary palate and hypoglossia. Our recent work determined that the ta2 mutation affected ciliogenesis via a deletion mutation in C2CD3 (Chang et al., 2014), a centriolar protein required for ciliogenesis. Concurrently, mutations in C2CD3 were found in a subset of individuals with the human craniofacial ciliopathy oral-facial-digital syndrome (OFD) (Thauvin-Robinet et al., 2014). We utilize the avian ta2 mutant to determine the cellular and molecular etiology of the common oral-facial phenotypes present in OFD patients. Specifically, we examine how C2CD3-dependent ciliogenesis affects the development of cranial neural crest cells, the progenitors of the facial skeleton.