Journal
DEVELOPMENTAL CELL
Volume 25, Issue 6, Pages 623-635Publisher
CELL PRESS
DOI: 10.1016/j.devcel.2013.05.021
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Funding
- Medical Research Council (MRC) [G0900867]
- European Research Council [ERC-2010-StG-261299]
- German National Academy of Sciences Leopoldina [LPDS 2009-31]
- National Institutes of Health (NIH) [ES020619, NS076465, HD067244]
- The March of Dimes
- The Burroughs Wellcome Fund
- National Institute of Dental and Craniofacial Research/NIH [F32DE023272]
- Wellcome Trust [WT081880AIA]
- Wellcome VIP award
- Biotechnology and Biological Sciences Research Council [BB/E013872, BB/I021922/1]
- MRC studentship
- King's College London Dental Institute
- Wellcome Trust Vacation Studentship
- Biotechnology and Biological Sciences Research Council [BB/I021922/1] Funding Source: researchfish
- Medical Research Council [985569, G0900867] Funding Source: researchfish
- BBSRC [BB/I021922/1] Funding Source: UKRI
- MRC [G0900867] Funding Source: UKRI
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Ciliopathies are a broad class of human disorders with craniofacial dysmorphology as a common feature. Among these is high arched palate, a condition that affects speech and quality of life. Using the ciliopathic Fuz mutant mouse, we find that high arched palate does not, as commonly suggested, arise from mid-face hypoplasia. Rather, increased neural crest expands the maxillary primordia. In Fuz mutants, this phenotype stems from dysregulated Gli processing, which in turn results in excessive craniofacial Fgf8 gene expression. Accordingly, genetic reduction of Fgf8 ameliorates the maxillary phenotypes. Similar phenotypes result from mutation of oral-facial-digital syndrome 1 (Ofd1), suggesting that aberrant transcription of Fgf8 is a common feature of ciliopathies. High arched palate is also a prevalent feature of fibroblast growth factor (FGF) hyperactivation syndromes. Thus, our findings elucidate the etiology for a common craniofacial anomaly and identify links between two classes of human disease: FGF-hyperactivation syndromes and ciliopathies.
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