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Gene Review

Ccd  -  cleidocranial dysplasia

Mus musculus

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Disease relevance of Ccd


High impact information on Ccd


Biological context of Ccd

  • Histology and in situ hybridization experiments were performed to compare the temporal and spatial expression of several genes in wild-type and Ccd mutant mouse embryos [10].
  • Heterozygotes for cleidocranial dysplasia (Ccd) and short digits (Dsh) were crossed to test whether synergistic interactions occur between different dominant mutations whose individual pleiotropic phenotypic effects exhibit a common feature [11].
  • We further identified three putative hypomorphic mutations (R391X, T200A and 90insC) which result in a clinical spectrum including classic and mild CCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth [12].
  • These, and mutations which result in premature termination in the runt domain, produced a classic CCD phenotype by abolishing transactivation of the mutant protein with consequent haploinsufficiency [12].
  • Mutations in this gene cause cleidocranial dysplasia (CCD), an autosomal dominant disorder in humans and mice characterized by defective bone formation [13].

Anatomical context of Ccd


Other interactions of Ccd


Analytical, diagnostic and therapeutic context of Ccd


  1. Runx2 (Cbfa1) inhibits Shh signaling in the lower but not upper molars of mouse embryos and prevents the budding of putative successional teeth. Wang, X.P., Aberg, T., James, M.J., Levanon, D., Groner, Y., Thesleff, I. J. Dent. Res. (2005) [Pubmed]
  2. The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia. Zhang, Y.W., Bae, S.C., Takahashi, E., Ito, Y. Oncogene (1997) [Pubmed]
  3. Serine phosphorylation of RUNX2 with novel potential functions as negative regulatory mechanisms. Wee, H.J., Huang, G., Shigesada, K., Ito, Y. EMBO Rep. (2002) [Pubmed]
  4. Apoptosis in murine calvarial bone and suture development. Rice, D.P., Kim, H.J., Thesleff, I. Eur. J. Oral Sci. (1999) [Pubmed]
  5. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Morava, E., Kárteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., Méhes, K. Eur. J. Pediatr. (2002) [Pubmed]
  6. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Otto, F., Thornell, A.P., Crompton, T., Denzel, A., Gilmour, K.C., Rosewell, I.R., Stamp, G.W., Beddington, R.S., Mundlos, S., Olsen, B.R., Selby, P.B., Owen, M.J. Cell (1997) [Pubmed]
  7. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Lee, B., Thirunavukkarasu, K., Zhou, L., Pastore, L., Baldini, A., Hecht, J., Geoffroy, V., Ducy, P., Karsenty, G. Nat. Genet. (1997) [Pubmed]
  8. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Mundlos, S., Otto, F., Mundlos, C., Mulliken, J.B., Aylsworth, A.S., Albright, S., Lindhout, D., Cole, W.G., Henn, W., Knoll, J.H., Owen, M.J., Mertelsmann, R., Zabel, B.U., Olsen, B.R. Cell (1997) [Pubmed]
  9. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Zheng, Q., Sebald, E., Zhou, G., Chen, Y., Wilcox, W., Lee, B., Krakow, D. Am. J. Hum. Genet. (2005) [Pubmed]
  10. Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Huang, L.F., Fukai, N., Selby, P.B., Olsen, B.R., Mundlos, S. Dev. Dyn. (1997) [Pubmed]
  11. Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). Selby, P.B., Bolch, S.N., Mierzejewski, V.S., McKinley, T.W., Raymer, G.D. J. Hered. (1993) [Pubmed]
  12. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B.D., Pirinen, S., Berry, S.A., Greenberg, C.R., Karsenty, G., Lee, B. Hum. Mol. Genet. (1999) [Pubmed]
  13. Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice. D'Souza, R.N., Aberg, T., Gaikwad, J., Cavender, A., Owen, M., Karsenty, G., Thesleff, I. Development (1999) [Pubmed]
  14. Differential expression patterns of Runx2 isoforms in cranial suture morphogenesis. Park, M.H., Shin, H.I., Choi, J.Y., Nam, S.H., Kim, Y.J., Kim, H.J., Ryoo, H.M. J. Bone Miner. Res. (2001) [Pubmed]
  15. Animal model: skeletal anomalies in mice with cleidocranial dysplasia. Sillence, D.O., Ritchie, H.E., Selby, P.B. Am. J. Med. Genet. (1987) [Pubmed]
  16. Molecular mechanisms in calvarial bone and suture development, and their relation to craniosynostosis. Rice, D.P., Rice, R., Thesleff, I. European journal of orthodontics. (2003) [Pubmed]
  17. New developments in bone formation. Owen, M.J., Karsenty, G. Curr. Opin. Nephrol. Hypertens. (1998) [Pubmed]
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