TBX3
T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.[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
- ↑ Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (Jan 1997). "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family". Nat Genet 15 (1): 21–9. doi:10.1038/ng0197-21. PMID 8988164.
- ↑ 2.0 2.1 "Entrez Gene: TBX3 T-box 3 (ulnar mammary syndrome)".
- ↑ The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature (Nature Publishing Group) 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. Retrieved 24 September 2012.
Further reading
- 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. PMID 9207801.
- Bamshad M, Le T, Watkins WS et al. (1999). "The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.". Am. J. Hum. Genet. 64 (6): 1550–62. doi:10.1086/302417. PMC 1377898. PMID 10330342.
- He M, Wen L, Campbell CE et al. (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 (18): 10212–7. doi:10.1073/pnas.96.18.10212. PMC 17868. PMID 10468588.
- 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. PMID 11689487.
- 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. PMID 11748239.
- 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. PMID 12000749.
- 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.". Structure 10 (3): 343–56. doi:10.1016/S0969-2126(02)00722-0. PMID 12005433.
- 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.". Oncogene 21 (24): 3827–35. doi:10.1038/sj.onc.1205476. PMID 12032820.
- 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. PMID 12116211.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. PMID 12668170.
- 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. PMID 14702039.
- 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. PMID 15289316.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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. Cancer 118 (2): 412–21. doi:10.1002/ijc.21332. PMID 16049973.
- Yang L, Cai CL, Lin L et al. (2006). "Isl1Cre reveals a common Bmp pathway in heart and limb development.". Development 133 (8): 1575–85. doi:10.1242/dev.02322. PMID 16556916.
- 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. PMID 16955224.
- Olsen JV, Blagoev B, Gnad F et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- 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. PMID 17234970.
PDB gallery |
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| | 1h6f: HUMAN TBX3, A TRANSCRIPTION FACTOR RESPONSIBLE FOR ULNAR-MAMMARY SYNDROME , BOUND TO A PALINDROMIC DNA SITE |
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| | (2.1) Nuclear receptor (Cys4) | | subfamily 1 | |
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| | (2.2) Other Cys4 | |
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| | (2.3) Cys2His2 | |
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| | (2.4) Cys6 | |
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| | see also transcription factor/coregulator deficiencies
Index of genetics |
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| | Description |
- Gene expression
- DNA
- replication
- cycle
- recombination
- repair
- binding proteins
- Transcription
- factors
- regulators
- nucleic acids
- RNA
- RNA binding proteins
- ribonucleoproteins
- repeated sequence
- modification
- Translation
- ribosome
- modification
- nexins
- Proteins
- domains
- Structure
- primary
- secondary
- tertiary
- quaternary
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| | Disease |
- Replication and repair
- Transcription factor
- Transcription
- Translation
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