Investigation of the role of primary cilia during signalling events in development using the chicken mutant talpid 3

Lead Research Organisation: University of Edinburgh
Department Name: UNLISTED


Talpid3 is an embryonically lethal chicken mutation. The phenotype is pleiotropic and includes limb polydactyly (many digits), facial and vascular defects and failure to form bone. We will build on recent progress in mapping the talpid3 mutation and identify the talpid3 gene. This gene is of fundamental importance because in this mutant all Hedgehog signalling is disrupted. Hedgehogs are a major class of extracellular signalling molecules, implicated in cell differentiation and survival both in embryos and tumours. Talpid3 limbs have many digits with no anterior-posterior pattern. We will exploit chicken genome resources and microarray technology to make comprehensive comparison of patterns of gene expression in normal and talpid3 limb buds. This will identify target genes downstream of the talpid3 gene and also identify new genes involved in anterior-posterior limb patterning.


10 25 50
Description The chicken talpid3 mutant, which have a mutation in TALPID3 lack primary cilia, a small organelle found on the surface of each cell.

As primary cilia are important in embryo development, we found that a loss of primary cilia in causes defects in bone, liver and left/right axis specification.
Exploitation Route The findings have already supported further funding in which we identified that TALPID3 mutations cause human ciliopathy conditions.
Sectors Healthcare,Pharmaceuticals and Medical Biotechnology

Description TALPID3 mutations have been found to cause human Joubert Syndrome. Pre-implanation diagnosis has now been used to select human embryos who do not carry TALPID3 mutations in affected Joubert syndrome families.
First Year Of Impact 2015
Sector Pharmaceuticals and Medical Biotechnology
Impact Types Policy & public services

Description Nordic Centrosome and Cilia Network 
Organisation Nordic Cilia and Centrosome Network
Country Global 
Sector Charity/Non Profit 
PI Contribution Training partnerships, conferences
Collaborator Contribution Training partnerships, conferences
Impact Training[ proteomics
Start Year 2012
Description Nuffield Research Placement 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Schools
Results and Impact Encouraged STEM careers

Students went on to take STEM subjects at university
Year(s) Of Engagement Activity 2009,2010,2011,2012,2013