Craniofacial Ciliopathies and the Interpretation of Hedgehog Signal Transduction

An emerging body of literature has shown that cilia-dependent Hedgehog (HH) signaling is crucial to the patterning of the face. Ciliopathic mutations are frequently associated with craniofacial anomalies, and while the links are clear, the observed phenotypes can vary widely, leading to confusion about how these mutations affect processing of HH effectors. In November 2016’s issue of PLOS Genetics, Chang et al. uncover an important role for HH-dependent transcriptional repression during facial development.