The chicken talpid2 and talpid3 mutants display a range of developmental phenotypes including craniofacial and limb defects. Although links to the sonic hedgehog (SHH) pathway had been proposed, the molecular nature of these mutations remained unclear for many years. The talpid3 phenotype is known to be caused by mutation in a ciliary protein – consistent with the known function of the cilium in SHH signal transduction. Now (p. 3003), Samantha Brugmann and colleagues turn their attention to talpid2. Focusing on the craniofacial phenotype, they show that talpid2 mutants display loss of coupling between ligand expression levels and SHH pathway activity as well as increased levels of GLI3A – the activator form of one of the transcription factors that mediate SHH signalling. At a cellular level, cilia fail to form properly in the mutants. Using whole genome sequencing approaches, the authors identify lesions in the ciliary protein C2CD3 in talpid2 mutants. Identification of the talpid2 locus has been long awaited, and although there is still much to understand about how C2CD3 regulates cilia formation and function, and SHH signalling, these data provide an important step in this direction.
talpid2: a mystery finally solved
talpid2: a mystery finally solved. Development 1 August 2014; 141 (15): e1501. doi:
Download citation file:
Advertisement
Cited by
Call for papers: Uncovering Developmental Diversity
Development invites you to submit your latest research to our upcoming special issue: Uncovering Developmental Diversity. This issue will be coordinated by our academic Editor Cassandra Extavour (Harvard University, USA) alongside two Guest Editors: Liam Dolan (Gregor Mendel Institute of Molecular Plant Biology, Austria) and Karen Sears (University of California Los Angeles, USA).
Choose Development in 2024
In this Editorial, Development Editor-in-Chief James Briscoe and Executive Editor Katherine Brown explain how you support your community by publishing in Development and how the journal champions serious science, community connections and progressive publishing.
Journal Meeting: From Stem Cells to Human Development
Register now for the 2024 Development Journal Meeting From Stem Cells to Human Development. Early-bird registration deadline: 3 May. Abstract submission deadline: 21 June.
Pluripotency of a founding field: rebranding developmental biology
This collaborative Perspective, the result of a workshop held in 2023, proposes a set of community actions to increase the visibility of the developmental biology field. The authors make recommendations for new funding streams, frameworks for collaborations and mechanisms by which members of the community can promote themselves and their research.
Read & Publish Open Access publishing: what authors say
We have had great feedback from authors who have benefitted from our Read & Publish agreement with their institution and have been able to publish Open Access with us without paying an APC. Read what they had to say.