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Gene Review

Tbx6  -  T-box 6

Mus musculus

Synonyms: T-box protein 6, T-box transcription factor TBX6, rv
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Disease relevance of Tbx6

  • The similarity in the phenotypes we describe here and that of some human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx6 or components of this pathway may be responsible for these defects [1].

High impact information on Tbx6


Biological context of Tbx6

  • Tbx6 maps to chromosome 7 and does not appear to be linked to any known mutation [4].
  • We have obtained cDNA clones encoding the full-length Tbx6 protein from screens of gastrulation-stage mouse cDNA libraries and determined the spatial and temporal distribution of Tbx6 transcripts during embryogenesis [4].
  • As a first step toward identifying downstream targets of Tbx6, we examined the DNA binding properties of Tbx6 and identified a Tbx6 consensus binding site [5].
  • We have begun to investigate how Tbx6 expression is controlled during development using a transgenic approach to identify the cis-acting regulatory regions [6].
  • By fine genetic mapping and complementation testing we have identified Tbx6, a gene essential for paraxial mesoderm formation, as the gene mutated in rv [7].

Anatomical context of Tbx6

  • Tbx6, a mouse T-Box gene implicated in paraxial mesoderm formation at gastrulation [4].
  • Tbx6 transcripts are first detected in the gastrulation stage embryo in the primitive streak and newly recruited paraxial mesoderm [4].
  • Brachyury is also expressed in a second domain, the node and notochord, that is not shared with Tbx6 [4].
  • Unlike other members of the mouse T-box gene family which are expressed in a wide variety of tissues derived from all germ layers, Tbx6 expression is quite restricted [4].
  • Defective somite patterning in mouse embryos with reduced levels of Tbx6 [1].

Associations of Tbx6 with chemical compounds

  • Tbx6 is a member of the T-box family of proteins, which share a region of homology corresponding to the DNA-binding domain of the transcription factor T [8].

Physical interactions of Tbx6


Other interactions of Tbx6

  • The onset of Tbx6 expression is not affected in homozygous null Brachyury mutant embryos at 7.5 days postcoitus [4].
  • Dll1 is a downstream target of Tbx6 in the paraxial mesoderm [5].
  • In our current study, we show that a T-box transcription factor, Tbx6, is essential for Mesp2 expression [9].
  • Furthermore, we show that FGFR1 functions in mesoderm cell fate specification by positively regulating Brachyury and Tbx6 expression [10].
  • Regulation of Tbx6 expression by Notch signaling [6].

Analytical, diagnostic and therapeutic context of Tbx6

  • To discover whether different T-box proteins interact on the same down stream targets in areas of expression overlap, we have explored potential interactions between Tbx6 and T (Brachyury) in genetic crosses [11].


  1. Defective somite patterning in mouse embryos with reduced levels of Tbx6. White, P.H., Farkas, D.R., McFadden, E.E., Chapman, D.L. Development (2003) [Pubmed]
  2. Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6. Chapman, D.L., Papaioannou, V.E. Nature (1998) [Pubmed]
  3. T (Brachyury) is a direct target of Wnt3a during paraxial mesoderm specification. Yamaguchi, T.P., Takada, S., Yoshikawa, Y., Wu, N., McMahon, A.P. Genes Dev. (1999) [Pubmed]
  4. Tbx6, a mouse T-Box gene implicated in paraxial mesoderm formation at gastrulation. Chapman, D.L., Agulnik, I., Hancock, S., Silver, L.M., Papaioannou, V.E. Dev. Biol. (1996) [Pubmed]
  5. Dll1 is a downstream target of Tbx6 in the paraxial mesoderm. White, P.H., Chapman, D.L. Genesis (2005) [Pubmed]
  6. Regulation of Tbx6 expression by Notch signaling. White, P.H., Farkas, D.R., Chapman, D.L. Genesis (2005) [Pubmed]
  7. The mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele. Watabe-Rudolph, M., Schlautmann, N., Papaioannou, V.E., Gossler, A. Mech. Dev. (2002) [Pubmed]
  8. The human TBX6 gene: cloning and assignment to chromosome 16p11.2. Papapetrou, C., Putt, W., Fox, M., Edwards, Y.H. Genomics (1999) [Pubmed]
  9. Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression. Yasuhiko, Y., Haraguchi, S., Kitajima, S., Takahashi, Y., Kanno, J., Saga, Y. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  10. FGF signaling regulates mesoderm cell fate specification and morphogenetic movement at the primitive streak. Ciruna, B., Rossant, J. Dev. Cell (2001) [Pubmed]
  11. Critical role for Tbx6 in mesoderm specification in the mouse embryo. Chapman, D.L., Cooper-Morgan, A., Harrelson, Z., Papaioannou, V.E. Mech. Dev. (2003) [Pubmed]
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