| First Author | Echevarría-Andino ML | Year | 2020 |
| Journal | Development | Volume | 147 |
| Issue | 23 | PubMed ID | 33060130 |
| Mgi Jnum | J:300506 | Mgi Id | MGI:6503739 |
| Doi | 10.1242/dev.189076 | Citation | Echevarria-Andino ML, et al. (2020) The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development. Development 147(23):dev189076 |
| abstractText | The Hedgehog (HH) pathway controls multiple aspects of craniofacial development. HH ligands signal through the canonical receptor PTCH1, and three co-receptors: GAS1, CDON and BOC. Together, these co-receptors are required during embryogenesis to mediate proper HH signaling. Here, we investigated the individual and combined contributions of GAS1, CDON and BOC to HH-dependent mammalian craniofacial development. Notably, individual deletion of either Gas1 or Cdon results in variable holoprosencephaly phenotypes in mice, even on a congenic background. In contrast, we find that Boc deletion results in facial widening that correlates with increased HH target gene expression. In addition, Boc deletion in a Gas1 null background partially ameliorates the craniofacial defects observed in Gas1 single mutants; a phenotype that persists over developmental time, resulting in significant improvements to a subset of craniofacial structures. This contrasts with HH-dependent phenotypes in other tissues that significantly worsen following combined deletion of Gas1 and Boc Together, these data indicate that BOC acts as a multi-functional regulator of HH signaling during craniofacial development, alternately promoting or restraining HH pathway activity in a tissue-specific fashion. |
