T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3gene.[1][2]
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.[2] Mutations in TBX3 are implicated in cases of breast cancer.[3]
References
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Bamshad M, Lin RC, Law DJ et al. (1997). "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.". Nat. Genet.16 (3): 311–5. doi:10.1038/ng0797-311. PMID9207801.CS1 maint: Explicit use of et al. (link)
Carlson H, Ota S, Campbell CE, Hurlin PJ (2002). "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 (21): 2403–13. doi:10.1093/hmg/10.21.2403. PMID11689487.
Brummelkamp TR, Kortlever RM, Lingbeek M et al. (2002). "TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.". J. Biol. Chem.277 (8): 6567–72. doi:10.1074/jbc.M110492200. PMID11748239.CS1 maint: Explicit use of et al. (link)
Lingbeek ME, Jacobs JJ, 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 (29): 26120–7. doi:10.1074/jbc.M200403200. PMID12000749.
Coll M, Seidman JG, Müller CW (2002). "Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.". Structure10 (3): 343–56. doi:10.1016/S0969-2126(02)00722-0. PMID12005433.
Carlson H, Ota S, Song Y et al. (2002). "Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation.". Oncogene21 (24): 3827–35. doi:10.1038/sj.onc.1205476. PMID12032820.CS1 maint: Explicit use of et al. (link)
Sasaki G, Ogata T, Ishii T et al. (2002). "Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.". Am. J. Med. Genet.110 (4): 365–9. doi:10.1002/ajmg.10447. PMID12116211.CS1 maint: Explicit use of et al. (link)
Wollnik B, Kayserili H, Uyguner O et al. (2003). "Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.". Ann. Genet.45 (4): 213–7. doi:10.1016/S0003-3995(02)01144-9. PMID12668170.CS1 maint: Explicit use of et al. (link)
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.CS1 maint: Explicit use of et al. (link)
Fan W, Huang X, Chen C et al. (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 (15): 5132–9. doi:10.1158/0008-5472.CAN-04-0615. PMID15289316.CS1 maint: Explicit use of et al. (link)
Lomnytska M, Dubrovska A, Hellman U et al. (2006). "Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients.". Int. J. Cancer118 (2): 412–21. doi:10.1002/ijc.21332. PMID16049973.CS1 maint: Explicit use of et al. (link)
Yang L, Cai CL, Lin L et al. (2006). "Isl1Cre reveals a common Bmp pathway in heart and limb development.". Development133 (8): 1575–85. doi:10.1242/dev.02322. PMID16556916.CS1 maint: Explicit use of et al. (link)
Lee HS, Cho HH, Kim HK et al. (2007). "Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells.". Mol. Cell. Biochem.296 (1-2): 129–36. doi:10.1007/s11010-006-9306-4. PMID16955224.CS1 maint: Explicit use of et al. (link)
Olsen JV, Blagoev B, Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID17081983.CS1 maint: Explicit use of et al. (link)
Mommersteeg MT, Hoogaars WM, Prall OW et al. (2007). "Molecular pathway for the localized formation of the sinoatrial node.". Circ. Res.100 (3): 354–62. doi:10.1161/01.RES.0000258019.74591.b3. PMID17234970.CS1 maint: Explicit use of et al. (link)
PDB gallery
1h6f: HUMAN TBX3, A TRANSCRIPTION FACTOR RESPONSIBLE FOR ULNAR-MAMMARY SYNDROME , BOUND TO A PALINDROMIC DNA SITE