TBX3 and its splice variant TBX3 + exon 2a are functionally similar

Pigment Cell and Melanoma Research

Volumn 21, Issue 3, 2008, Pages 379-387

  Hoogaars, Willem M H ^a   Barnett, Phil ^a   Rodriguez, Mercedes ^b   Clout, Danielle E ^a   Moorman, Antoon F M ^a   Goding, Colin R ^b   Christoffels, Vincent M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b MARIE CURIE RESEARCH INSTITUTE   (United Kingdom)

Author keywords

Alternative splicing; ANF; Cardiac development; Isoforms; p21CIP1; Repression; Senescence; Tbx3

Indexed keywords

CONNEXIN 40; CYCLIN DEPENDENT KINASE INHIBITOR 1; CYCLIN DEPENDENT KINASE INHIBITOR 2A; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX3;

ARTICLE; CONTROLLED STUDY; EMBRYO; EXON; HEART DEVELOPMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; SENESCENCE; UPREGULATION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CELLS, CULTURED; CONSERVED SEQUENCE; CYCLIN-DEPENDENT KINASE INHIBITOR P21; DNA, RECOMBINANT; EXONS; HOMEODOMAIN PROTEINS; HUMANS; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; NATRIURETIC PEPTIDE, C-TYPE; PROMOTER REGIONS (GENETICS); PROTEIN PRECURSORS; SEQUENCE ALIGNMENT; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

MUS;

EID: 43549088089     PISSN: None     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1755-148X.2008.00461.x     Document Type: Article

References (27)

1. Bamshad, M., Lin, R.C., Law, D.J. et al. (1997). Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet. 16, 311 315.
2. Bamshad, M., Le, T., Watkins, W.S. et al. (1999). The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. Am. J. Hum. Genet. 64, 1550 1562.
3. Brummelkamp, T.R., Kortlever, R.M., Lingbeek, M., Trettel, F., MacDonald, M.E., van Lohuizen, M. Bernards, R. (2002). TBX-3, the gene mutated in ulnar-mammary syndrome, is a negative regulator of p19ARF and inhibits senescence. J. Biol. Chem. 277, 6567 6572.
4. Bruneau, B.G., Nemer, G., Schmitt, J.P. et al. (2001). A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106, 709 721.
5. Carlson, H., Ota, S., Campbell, C.E. Hurlin, P.J. (2001). A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. Hum. Mol. Genet. 10, 2403 2413.
6. Carlson, H., Ota, S., Song, Y., Chen, Y. Hurlin, P.J. (2002). Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. Oncogene 21, 3827 3835.
7. Christoffels, V.M., Hoogaars, W.M.H., Tessari, A., Clout, D.E.W., Moorman, A.F.M. Campione, M. (2004). T-box transcription factor Tbx2 represses differentiation and formation of the cardiac chambers. Dev. Dyn. 229, 763 770.
8. Coll, M., Seidman, J.G. Muller, C.W. (2002). Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. Structure (Camb) 10, 343 356.
9. Davenport, T.G., Jerome-Majewska, L.A. Papaioannou, V.E. (2003). Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. Development 130, 2263 2273.
10. Davis, E., Teng, H., Bilican, B., Parker, M.I., Liu, B., Carriera, S., Goding, C.R. Prince, S. (2008). Ectopic Tbx2 expression results in polyploidy and cisplatin resistance. Oncogene 27, 976 984.
11. Fan, C., Liu, M. Wang, Q. (2003). Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J. Biol. Chem. 278, 8780 8785.
12. Fan, W., Huang, X., Chen, C., Gray, J. Huang, T. (2004). TBX3 and its isoform TBX3 + 2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. Cancer Res. 64, 5132 5139.
13. Ghosh, T.K., Packham, E.A., Bonser, A.J., Robinson, T.E., Cross, S.J. Brook, J.D. (2001). Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum. Mol. Genet. 10, 1983 1994.
14. Habets, P.E.M.H., Moorman, A.F.M., Clout, D.E.W., van Roon, M.A., Lingbeek, M., Lohuizen, M., Campione, M. Christoffels, V.M. (2002). Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev. 16, 1234 1246.
15. He, M., Wen, L., Campbell, C.E., Wu, J.Y. Rao, Y. (1999). Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. Proc. Natl Acad. Sci. U. S. A. 96, 10212 10217.
16. Hiroi, Y., Kudoh, S., Monzen, K., Ikeda, Y., Yazaki, Y., Nagai, R. Komuro, I. (2001). Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. 28, 276 280.
17. Hoek, K., Rimm, D.L., Williams, K.R. et al. (2004). Xpression profiling reveals novel pathways in the transformation of melanocytes to melanomas. Cancer Res. 64, 5270 5282.
18. Hoogaars, W.M.H., Tessari, A., Moorman, A.F.M., de Boer, P.A.J., Hagoort, J., Soufan, A.T., Campione, M. Christoffels, V.M. (2004). The transcriptional repressor Tbx3 delineates the developing central conduction system of the heart. Cardiovasc. Res. 62, 489 499.
19. Hoogaars, W.M.H., Barnett, P., Moorman, A.F.M. Christoffels, V.M. (2007a). T-box factors determine cardiac design. Cell. Mol. Life Sci. 64, 646 660.
20. Hoogaars, W.M.H., Engel, A., Brons, J.F. et al. (2007b). Tbx3 controls the sinoatrial node gene program and imposes pacemaker function on the atria. Genes Dev. 21, 1098 1112.
21. Arf/p53- independent pathway. Dev. Dyn. 234, 922 933.
22. Lingbeek, M.E., Jacobs, J.J. van Lohuizen, M. (2002). The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator. J. Biol. Chem. 277, 26120 26127.
23. Mommersteeg, M.T.M., Hoogaars, W.M.H., Prall, O.W.J. et al. (2007). Molecular pathway for the localized formation of the sinoatrial node. Circ. Res. 100, 354 362.
24. Muller, C.W. Herrmann, B.G. (1997). Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor. Nature 389, 884 888.
25. Prince, S., Carreira, S., Vance, K.W., Abrahams, A. Goding, C.R. (2004). Tbx2 directly represses the expression of the p21(WAF1) cyclin-dependent kinase inhibitor. Cancer Res. 64, 1669 1674.
26. Vance, K.W., Carreira, S., Brosch, G. Goding, C.R. (2005). Tbx2 is overexpressed and plays an important role in maintaining proliferation and suppression of senescence in melanomas. Cancer Res. 65, 2260 2268.
27. Wang, G.S. Cooper, T.A. (2007). Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8, 749 761.