BCOR
BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.[1][2]
The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. At least four alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene.[2]
Mutations in the BCOR gene cause a form of syndromic microphthalmia (small eye) called MCOPS2. This syndrome incorporates microphthalmia, congenital cataracts, cardiac defects, dental defects and skeletal anomalies. Mutations in this gene have also been found associated to acute myeloid leukemia[3] .
Interactions
BCOR has been shown to interact with MLLT3[4] and BCL6.[1]
References
- ^ a b Huynh KD, Fischle W, Verdin E, Bardwell VJ (Aug 2000). "BCoR, a novel corepressor involved in BCL-6 repression". Genes Dev 14 (14): 1810–23. doi:10.1101/gad.14.14.1810. PMC 316791. PMID 10898795. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=316791.
- ^ a b "Entrez Gene: BCOR BCL6 co-repressor". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54880.
- ^ Grossmann, V; Tiacci, E, Holmes, AB, Kohlmann, A, Martelli, MP, Kern, W, Spanhol-Rosseto, A, Klein, HU, Dugas, M, Schindela, S, Trifonov, V, Schnittger, S, Haferlach, C, Bassan, R, Wells, VA, Spinelli, O, Chan, J, Rossi, R, Baldoni, S, De Carolis, L, Goetze, K, Serve, H, Peceny, R, Kreuzer, KA, Oruzio, D, Specchia, G, Di Raimondo, F, Fabbiano, F, Sborgia, M, Liso, A, Farinelli, L, Rambaldi, A, Pasqualucci, L, Rabadan, R, Haferlach, T, Falini, B (2011 Oct 19). "Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype.". Blood. PMID 22012066.
- ^ Srinivasan, R Sathish; de Erkenez Andrea C, Hemenway Charles S (May. 2003). "The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor". Oncogene (England) 22 (22): 3395–406. doi:10.1038/sj.onc.1206361. ISSN 0950-9232. PMID 12776190.
External links
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
- Tang TT, Dowbenko D, Jackson A, et al. (2002). "The forkhead transcription factor AFX activates apoptosis by induction of the BCL-6 transcriptional repressor". J. Biol. Chem. 277 (16): 14255–65. doi:10.1074/jbc.M110901200. PMID 11777915.
- Ng D, Hadley DW, Tifft CJ, Biesecker LG (2002). "Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?". Am. J. Med. Genet. 110 (4): 308–14. doi:10.1002/ajmg.10484. PMID 12116202.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Tomsig JL, Snyder SL, Creutz CE (2003). "Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif". J. Biol. Chem. 278 (12): 10048–54. doi:10.1074/jbc.M212632200. PMID 12522145.
- Srinivasan RS, de Erkenez AC, Hemenway CS (2003). "The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor". Oncogene 22 (22): 3395–406. doi:10.1038/sj.onc.1206361. PMID 12776190.
- 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.
- Ng D, Thakker N, Corcoran CM, et al. (2004). "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR". Nat. Genet. 36 (4): 411–6. doi:10.1038/ng1321. PMID 15004558.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=514446.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Horn D, Chyrek M, Kleier S, et al. (2005). "Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome". Eur. J. Hum. Genet. 13 (5): 563–9. doi:10.1038/sj.ejhg.5201391. PMID 15770227.
- Lee JA, Suh DC, Kang JE, et al. (2005). "Transcriptional activity of Sp1 is regulated by molecular interactions between the zinc finger DNA binding domain and the inhibitory domain with corepressors, and this interaction is modulated by MEK". J. Biol. Chem. 280 (30): 28061–71. doi:10.1074/jbc.M414134200. PMID 15878880.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Gearhart MD, Corcoran CM, Wamstad JA, Bardwell VJ (2006). "Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets". Mol. Cell. Biol. 26 (18): 6880–9. doi:10.1128/MCB.00630-06. PMC 1592854. PMID 16943429. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1592854.
- Hilton EN, Manson FD, Urquhart JE, et al. (2007). "Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination". Hum. Mol. Genet. 16 (14): 1773–82. doi:10.1093/hmg/ddm125. PMID 17517692.