ArticleProceedings of the National Academy of Sciences of the United States of America2004
The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Review
- A Novel Nonsense Variant in TBX15 Transcription Factor Suggests an Expanded Genetic Spectrum Of Submucous Cleft Palate.International dental journal · 2026Article
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Genome-wide signatures of mammalian skin covering evolution.Science China. Life sciences · 2021Article
- Genome sequences of Tropheus moorii and Petrochromis trewavasae, two eco-morphologically divergent cichlid fishes endemic to Lake Tanganyika.Scientific reports · 2021Article
- MicroRNA-124-3p suppresses mouse lip mesenchymal cell proliferation through the regulation of genes associated with cleft lip in the mouse.BMC genomics · 2019Article
- Gene datasets associated with mouse cleft palate.Data in brief · 2018Article
- The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.Developmental biology · 2016Review
- The T-box gene family: emerging roles in development, stem cells and cancer.Development (Cambridge, England) · 2014Review
- Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012Review
- X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.American journal of human genetics · 2011Article
- Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.Molecular syndromology · 2011Article
- Pharmacological inhibition of intracellular calcium release blocks acid-induced bone resorption.American journal of physiology. Renal physiology · 2011Article
- Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.Human molecular genetics · 2009Article
- Identification of microdeletions in candidate genes for cleft lip and/or palate.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
- Identification and developmental expression of two Tbx1/10-related genes in the agnathan Lethenteron japonicum.Development genes and evolution · 2007Article
- Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development.Brain research · 2006Review
- Development of the upper lip: morphogenetic and molecular mechanisms.Developmental dynamics : an official publication of the American Association of Anatomists · 2006Review
- Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice.Developmental dynamics : an official publication of the American Association of Anatomists · 2006Article
- PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.Journal of human genetics · 2006Article
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3 authors at 1 institution in 1 country.
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Abstract
Cleft lip and palate (CL/P) is a common disfiguring birth defect with complex, poorly understood etiology. Mice carrying a spontaneous mutation, Dancer (Dc), exhibit CL/P in homozygotes and show significantly increased susceptibility to CL/P in heterozygotes [Deol, M. S. & Lane, P. W. (1966) J. Embryol. Exp. Morphol. 16, 543-558 and Trasler, D. G., Kemp, D. & Trasler, T. A. (1984) Teratology 29, 101-104], providing an animal model for understanding the molecular pathogenesis of CL/P. We genetically mapped Dc to within a 1-cM region near the centromere of chromosome 19. In situ hybridization analysis showed that one positional candidate gene, Tbx10, is ectopically expressed in Dc mutant embryos. Positional cloning of the Dc locus revealed an insertion of a 3.3-kb sequence containing the 5' region of the p23 gene into the first intron of Tbx10, which causes ectopic expression of a p23-Tbx10 chimeric transcript encoding a protein product identical to a normal variant of the Tbx10 protein. Furthermore, we show that ectopic expression of Tbx10 in transgenic mice recapitulates the Dc mutant phenotype, indicating that CL/Pin Dc mutant mice results from the p23 insertion-induced ectopic Tbx10 expression. These results identify gain of function of a T-box transcription factor gene as a mechanism underlying CL/P pathogenesis.
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