Human Molecular Genetics, 2003, Vol. 12, Review Issue 1 R37-R44
DOI: 10.1093/hmg/ddg077
© 2003 Oxford University Press
T-box genes in human disorders
Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, UK
Received December 4, 2002; Accepted December 19, 2002
The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt– Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and cleft palate with ankyloglossia/TBX22. This review describes the key features of these disorders and the involvement of T-box genes in their phenotype.
* To whom correspondence should be addressed. Tel: +44 1158493217; Fax: +44 1159709906; Email: David.Brook{at}nottingham.ac.uk
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  T. K. Ghosh, F. F. Song, E. A. Packham, S. Buxton, T. E. Robinson, J. Ronksley, T. Self, A. J. Bonser, and J. D. Brook Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development Mol. Cell. Biol., April 15, 2009; 29(8): 2205 - 2218. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Pirttiniemi, T. Peltomaki, L. Muller, and Hans. U. Luder Abnormal mandibular growth and the condylar cartilage Eur J Orthod, February 1, 2009; 31(1): 1 - 11. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. A. Miller, A. C. Huang, M. M. Miazgowicz, M. M. Brassil, and A. S. Weinmann Coordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression Genes & Dev., November 1, 2008; 22(21): 2980 - 2993. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. V. Postma, J. B.A. van de Meerakker, I. B. Mathijssen, P. Barnett, V. M. Christoffels, A. Ilgun, J. Lam, A. A.M. Wilde, R. H. Lekanne Deprez, and A. F.M. Moorman A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt-Oram Syndrome and Paroxysmal Atrial Fibrillation Circ. Res., June 6, 2008; 102(11): 1433 - 1442. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K.-J. Boogerd, L.Y. E. Wong, V. M. Christoffels, M. Klarenbeek, J. M. Ruijter, A. F.M. Moorman, and P. Barnett Msx1 and Msx2 are functional interacting partners of T-box factors in the regulation of Connexin43 Cardiovasc Res, June 1, 2008; 78(3): 485 - 493. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Kawamura, S. Koshida, and S. Takada Activator-to-Repressor Conversion of T-Box Transcription Factors by the Ripply Family of Groucho/TLE-Associated Mediators Mol. Cell. Biol., May 15, 2008; 28(10): 3236 - 3244. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. D. Lewis, S. A. Miller, M. M. Miazgowicz, K. M. Beima, and A. S. Weinmann T-bet's Ability To Regulate Individual Target Genes Requires the Conserved T-Box Domain To Recruit Histone Methyltransferase Activity and a Separate Family Member-Specific Transactivation Domain Mol. Cell. Biol., December 15, 2007; 27(24): 8510 - 8521. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. F. Farin, M. Bussen, M. K. Schmidt, M. K. Singh, K. Schuster-Gossler, and A. Kispert Transcriptional Repression by the T-box Proteins Tbx18 and Tbx15 Depends on Groucho Corepressors J. Biol. Chem., August 31, 2007; 282(35): 25748 - 25759. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. A. Harvey and M. P. O. Logan sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. Development, March 1, 2006; 133(6): 1165 - 1173. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Murakami, M. Nakagawa, E. N. Olson, and O. Nakagawa A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome PNAS, December 13, 2005; 102(50): 18034 - 18039. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. A. Stennard and R. P. Harvey T-box transcription factors and their roles in regulatory hierarchies in the developing heart Development, November 15, 2005; 132(22): 4897 - 4910. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. H. Fong, A. Emelyanov, C. Teh, and V. Korzh Wnt signalling mediated by Tbx2b regulates cell migration during formation of the neural plate Development, August 15, 2005; 132(16): 3587 - 3596. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Finotto, M. Hausding, A. Doganci, J. H. Maxeiner, H. A. Lehr, C. Luft, P. R. Galle, and L. H. Glimcher Asthmatic changes in mice lacking T-bet are mediated by IL-13 Int. Immunol., August 1, 2005; 17(8): 993 - 1007. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C.-L. Cai, W. Zhou, L. Yang, L. Bu, Y. Qyang, X. Zhang, X. Li, M. G. Rosenfeld, J. Chen, and S. Evans T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis Development, May 15, 2005; 132(10): 2475 - 2487. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. K. Takeuchi, M. Mileikovskaia, K. Koshiba-Takeuchi, A. B. Heidt, A. D. Mori, E. P. Arruda, M. Gertsenstein, R. Georges, L. Davidson, R. Mo, et al. Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development Development, May 15, 2005; 132(10): 2463 - 2474. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. A. Stennard, M. W. Costa, D. Lai, C. Biben, M. B. Furtado, M. J. Solloway, D. J. McCulley, C. Leimena, J. I. Preis, S. L. Dunwoodie, et al. Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation Development, May 15, 2005; 132(10): 2451 - 2462. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Gross and J. E. Dowling Tbx2b is essential for neuronal differentiation along the dorsal/ventral axis of the zebrafish retina PNAS, March 22, 2005; 102(12): 4371 - 4376. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. D. Brown, S. N. Martz, O. Binder, S. C. Goetz, B. M. J. Price, J. C. Smith, and F. L. Conlon Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis Development, February 1, 2005; 132(3): 553 - 563. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S.-G. Gong, T.-W. Gong, and L. Shum Identification of Markers of the Midface Journal of Dental Research, January 1, 2005; 84(1): 69 - 72. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Yuan and E. M. Joseph The small heart Mutation Reveals Novel Roles of Na+/K+-ATPase in Maintaining Ventricular Cardiomyocyte Morphology and Viability in Zebrafish Circ. Res., September 17, 2004; 95(6): 595 - 603. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Prince, S. Carreira, K. W. Vance, A. Abrahams, and C. R. Goding Tbx2 Directly Represses the Expression of the p21WAF1 Cyclin-Dependent Kinase Inhibitor Cancer Res., March 1, 2004; 64(5): 1669 - 1674. [Abstract] [Full Text] [PDF]
|
|