The T-box transcription factors TBX2 and TBX3 in mammary gland development and breast cancer

Journal of Mammary Gland Biology and Neoplasia

Volumn 18, Issue 2, 2013, Pages 143-147

  Douglas, Nataki C ^a   Papaioannou, Virginia E ^b  

^a NewYork Presbyterian Hospital   (United States)

^b NONE   (United States)

Author keywords

Breast cancer; Mammary development; T box; Tbx2; Tbx3; Transcription factor

Indexed keywords

T BOX TRANSCRIPTION FACTOR; T BOX TRANSCRIPTION FACTOR TBX2; T BOX TRANSCRIPTION FACTOR TBX3; UNCLASSIFIED DRUG;

ADVANCED CANCER; AUTOSOMAL DOMINANT DISORDER; BREAST CANCER; BREAST CARCINOGENESIS; BREAST DEVELOPMENT; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; GENE CONTROL; GENE FUNCTION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; NONHUMAN; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SIGNAL TRANSDUCTION; ULNAR MAMMARY SYNDROME;

ANIMALS; BREAST NEOPLASMS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MAMMARY GLANDS, ANIMAL; MAMMARY GLANDS, HUMAN; T-BOX DOMAIN PROTEINS;

EID: 84879685659     PISSN: 10833021     EISSN: 15737039     Source Type: Journal    
DOI: 10.1007/s10911-013-9282-8     Document Type: Review

References (37)

1. Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, et al. The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet. 1999;64:1550-62.
2. Bamshad M, Lin RC, Law DJ, Watkins WS, Krakowiak PA, Moore ME, et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet. 1997;16:311-5.
3. Meneghini V, Odent S, Platonova N, Egeo A, Merlo GR. Novel TBX3 mutation data in families with Ulnar-Mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. Eur J Med Genet. 2006;49(2):151-8.
4. Washkowitz AJ, Gavrilov S, Begum S, Papaioannou VE. Diverse functional networks of Tbx3 in development and disease. WIREs Syst Biol Med. 2012;4:273-83.
5. Wollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M. Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. Ann Genet. 2002;45:213-7.
6. Davenport TG, Jerome-Majewska LA, Papaioannou VE. Mammary gland, limb, and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. Development. 2003;130:2263-73.
7. Arf/p53-independent pathway. Dev Dyn. 2005;234:922-33.
8. Coll M, Seidman JG, Muller CW. Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. Structure. 2002;10:343-56.
9. He M-L, Wen L, Campbell CE, Wu JY, Rao Y. Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. Proc Natl Acad Sci U S A. 1999;96:10212-7.
10. Abrahams A, Parker MI, Prince S. The T-box transcription factor Tbx2: its role in development and possible implication in cancer. IUBMB Life. 2010;62(2):92-102.
11. Fan W, Huang X, Chen C, Gray J, Huang T. 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. 2004;64:5132-9.
12. Carlson H, Ota S, Campbell CE, Hurlin PJ. 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. 2001;10:2403-13.
13. Chapman DL, Garvey N, Hancock S, Alexiou M, Agulnik S, Gibson Brown JJ, et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn. 1996;206:379-90.
14. Eblaghie MC, Song S-J, Kim J-Y, Akita K, Tickle C, Jung H-S. Interactions between FGF and Wnt signals and Tbx3 gene expression in mammary gland initiation in mouse embryos. J Anat. 2004;205:1-13.
15. Platonova N, Scotti M, Babich P, Bertoli G, Mento E, Meneghini V, et al. TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. Cell Tissue Res. 2007;328(2):301-16.
16. Harrelson Z, Kelly RG, Goldin SN, Gibson-Brown JJ, Bollag RJ, Silver LM, et al. Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development. 2004;131:5041-52.
17. Bärlund M, Monni O, Kononen J, Cornelison R, Torhorst J, Sauter G, et al. Multiple genes at 17q23 undergo amplification and overexpression in breast cancer. Cancer Res. 2000;60:5340-4.
18. Sinclair CS, Adem C, Naderi A, Soderberg CL, Johnson M, Wu K, et al. TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors. Cancer Res. 2002;62:3587-91.
19. Adem C, Soderberg CL, Hafner K, Reynolds C, Slezak JM, Sinclair CS, et al. ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers. Gene Chromosome Cancer. 2004;41:1-11.
20. ARF ) and is amplified in a subset of human breast cancers. Nat Genet. 2000;26:291-9.
21. Fillmore CM, Gupta PB, Rudnick JA, Caballero S, Keller PJ, Lander ES, et al. Estrogen expands breast cancer stem-like cells through paracrine FGF/Tbx3 signaling. Proc Natl Acad Sci. 2010;107:21737-42.
22. Lomnytska M, Dubrovska A, Hellman U, Volodko N, Souchelnytskyi S. Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients. Int J Cancer. 2006;118:412-21.
23. ARF by interacting with histone deacetylases. Cancer Res. 2008;68:693-9.
24. Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature. 2012;486(7403):400-4.
25. Network TCGA. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70.
26. Mowla S, Pinnock R, Learner VD, Goding CR, Prince S. PMA-induced up-regulation of TBX3 is mediated by AP-1 and contributes to breast cancer cell migration. Biochem J. 2011;433:145-53.
27. Cho K-W, Kwon H-J, Shin J-O, Lee J-M, Cho S-W, Tickle C, et al. Retinoic acid signaling and the initiation of mammary gland development. Dev Biol. 2012;365:259-66.
28. Cho K-W, Kim J-Y, Song S-J, Farrell E, Eblaghie MC, Kim H-J, et al. Molecular interactions between Tbx3 and Bmp4 and a model for dorsoventral positioning of mammary gland development. Proc Natl Acad Sci U S A. 2006;103(45):16788-93.
29. Liu J, Esmailpour T, Shang X, Gulsen G, Liu A, Huang T. TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model. BMC Dev Biol. 2011;11:65.
30. ARF and inhibits senescence. J Biol Chem. 2002;277:6567-72.
31. ARF via a variant T-site in the initiator. J Biol Chem. 2002;277:26120-7.
32. Hoogaars WMH, Barnett P, Rodriguez M, Clout DE, Moorman AFM, Goding CR, et al. TBX3 and its splice variant TBX3 + exon 2a are functionally similar. Pigment Cell Melanoma Res. 2008;21:379-87.
33. WAF1 cyclin-dependent kinase inhibitor. Cancer Res. 2004;64:1669-74.
34. Abrahams A, Mowla S, Parker MI, Goding CR, Prince S. UV-mediated regulation of the anti-senescence factor Tbx2. J Biol Chem. 2007;283:2223-30.
35. Peres J, Davis E, Mowla S, Bennett DC, Li JA, Wansleben S, et al. The highly homologous T-box transcription factors, TBX2 an TBX3, have distinct roles in the oncogenic process. Genes Cancer. 2010;1(3):272-82.
36. Rodriguez M, Aladowicz E, Lanfrancone L, Goding CR. Tbx3 represses E-cadherin expression and enhances melanoma invasiveness. Cancer Res. 2008;68(19):7872-81.
37. Wang B, Lindley LE, Fernandez-Vega V, Rieger ME, Sims AH, Briegel KJ. The T box transcription factor TBX2 promotes epithelial-mesenchymal transition and invasion of normal and malignant breast epithelial cells. PLoS One. 2012;7(7):e41355. and Human Development