Article
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation.
Development (Cambridge, England) - 1 Feb 2009
Yin Yili, Bangs Fiona, Paton I Robert, Prescott Alan, James John, Davey Megan G, Whitley Paul, Genikhovich Grigory, Technau Ulrich, Burt David W, Tickle Cheryll
Abstract excerpt
The chicken talpid(3) mutant, with polydactyly and defects in other embryonic regions that depend on hedgehog (Hh) signalling (e.g. the neural tube), has a mutation in KIAA0568. Similar phenotypes are seen in mice and in human syndromes with mutations in genes that encode centrosomal or intraflagella transport proteins. Such mutations lead to defects in primary cilia, sites where Hh signalling occurs. Here, we...
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