BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.[5][6]
Function
editThe 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.[6]
Clinical significance
editMutations 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.[7]
Interactions
editReferences
edit- ^ a b c GRCh38: Ensembl release 89: ENSG00000183337 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040363 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Huynh KD, Fischle W, Verdin E, Bardwell VJ (Jul 2000). "BCoR, a novel corepressor involved in BCL-6 repression". Genes & Development. 14 (14): 1810–23. doi:10.1101/gad.14.14.1810. PMC 316791. PMID 10898795.
- ^ a b "Entrez Gene: BCOR BCL6 co-repressor".
- ^ 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 (Dec 2011). "Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype". Blood. 118 (23): 6153–63. doi:10.1182/blood-2011-07-365320. PMID 22012066.
- ^ Srinivasan RS, de Erkenez AC, Hemenway CS (May 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. S2CID 34517481.
Further reading
edit- Maruyama K, Sugano S (Jan 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, Suyama A, Sugano S (Oct 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, Hirosawa M, Ohara O (Aug 2000). "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 Research. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
- Tang TT, Dowbenko D, Jackson A, Toney L, Lewin DA, Dent AL, Lasky LA (Apr 2002). "The forkhead transcription factor AFX activates apoptosis by induction of the BCL-6 transcriptional repressor". The Journal of Biological Chemistry. 277 (16): 14255–65. doi:10.1074/jbc.M110901200. PMID 11777915.
- Ng D, Hadley DW, Tifft CJ, Biesecker LG (Jul 2002). "Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?". American Journal of Medical Genetics. 110 (4): 308–14. doi:10.1002/ajmg.10484. PMID 12116202.
- Tomsig JL, Snyder SL, Creutz CE (Mar 2003). "Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif". The Journal of Biological Chemistry. 278 (12): 10048–54. doi:10.1074/jbc.M212632200. PMID 12522145.
- Srinivasan RS, de Erkenez AC, Hemenway CS (May 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. S2CID 34517481.
- Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG (Apr 2004). "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR". Nature Genetics. 36 (4): 411–6. doi:10.1038/ng1321. PMID 15004558.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K (May 2005). "Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome". European Journal of Human Genetics. 13 (5): 563–9. doi:10.1038/sj.ejhg.5201391. PMID 15770227.
- Lee JA, Suh DC, Kang JE, Kim MH, Park H, Lee MN, Kim JM, Jeon BN, Roh HE, Yu MY, Choi KY, Kim KY, Hur MW (Jul 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". The Journal of Biological Chemistry. 280 (30): 28061–71. doi:10.1074/jbc.M414134200. PMID 15878880.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 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. S2CID 13709685.
- Gearhart MD, Corcoran CM, Wamstad JA, Bardwell VJ (Sep 2006). "Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets". Molecular and Cellular Biology. 26 (18): 6880–9. doi:10.1128/MCB.00630-06. PMC 1592854. PMID 16943429.
- Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC (Jul 2007). "Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination". Human Molecular Genetics. 16 (14): 1773–82. doi:10.1093/hmg/ddm125. PMID 17517692.
External links
edit- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- GeneReviews/NCBI/NIH/UW entry on Lenz Microphthalmia Syndrome
- Human BCOR genome location and BCOR gene details page in the UCSC Genome Browser.
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