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Gene Review

BCOR  -  BCL6 corepressor

Homo sapiens

Synonyms: ANOP2, BCL-6 corepressor, BCoR, FLJ20285, KIAA1575, ...
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Disease relevance of BCOR

  • Our results suggest that BCOR and/or an ECM-like protein could be involved in the pathogenesis of a subgroup of PNET or PNET-like sarcomas [1].
  • The breakpoint in Xp11 was mapped within a BAC clone containing BCOR, encoding a BCL6 (B-cell lymphoma 6)-interacting protein that may influence apoptosis, as the only known gene [1].

High impact information on BCOR

  • This indicates that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL-6 [2].
  • We cloned the zebrafish (Danio rerio) ortholog of BCOR and found that knock-down of this ortholog caused developmental perturbations of the eye, skeleton and central nervous system consistent with the human syndromes, confirming that BCOR is a key transcriptional regulator during early embryogenesis [2].
  • We show that BCOR coimmunoprecipitates isoforms of FBXL10 which contain a JmjC domain that recently has been determined to have histone H3K36 demethylase activity [3].
  • The corepressor BCOR potentiates transcriptional repression by the proto-oncoprotein BCL6 and suppresses the transcriptional activity of a common mixed-lineage leukemia fusion partner, AF9 [3].
  • The recruitment of two distinct classes of E3 ubiquitin ligases and a histone demethylase by BCOR suggests that BCOR uses a unique combination of epigenetic modifications to direct gene silencing [3].

Biological context of BCOR

  • Nonetheless, linkage and subsequent mutation analysis revealed a single missense mutation (p.P85L) in BCOR in a large family with presumed Lenz microphthalmia syndrome (MAA2) [4].
  • Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome [4].
  • We describe novel mutations in BCOR in three patients with OFCD syndrome, two small deletions (c.2488_2489delAG and c.3286delG) and a submicroscopic deletion of about 60 kb encompassing at least BCOR exons 2-15 [4].
  • By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene [5].
  • The interaction of AF9 with BCoR has been confirmed by independent in vitro and in vivo protein-binding studies [6].

Anatomical context of BCOR

  • In contrast, expression of MAA-1 and MAA-2 was observed in melanocytes throughout the dermal part of the naevi [7].

Associations of BCOR with chemical compounds

  • Thirty hydrogel lenses with a water content of 60% were examined in the Kelvin Soft Lens Measurement Gauge in order to assess their back central optic radii (BCOR) [8].
  • Maackia amurensis agglutinins (MAA-1 and MAA-2), specific for sialic acid in alpha2-3 linkage to Gal, bind SPACR, while Sambucus nigra agglutinin (SNA), specific for alpha2-6 linked sialic acid, does not, indicating that the dominant glycoconjugate determinant on SPACR is the O-linked carbohydrate, NeuAcalpha2-3Galbeta1-3GalNAc [9].
  • (-)-3- (BD13) (CC50=21.7 microg/mL) and (+)-3-(Trifluoroacetyl)camphor (BD12) (CC50=29.7 microg/mL) are enantiomers and showed cytotoxicity comparable to curcumin and dibenzoylmethane (BD2) (CC50=22.5 microg/mL) [10].
  • Further analyses of affected genes identified genes located on all human chromosomes with higher than normal effects on genes found on chromosomes 1-14, 17-20 (sex-determining region Y)-box18SRY, 21 (splicing factor, arginine/serine-rich 15 and ATP-binding), and X (including BCL6-co-repressor) [11].

Other interactions of BCOR

  • Dysplastic melanocytic naevi showed staining of gp-100, PAA, TRP-1, HLA-DR, MAA-1, and MAA-2 of junctional lesional melanocytes, but less intense than that of common acquired naevi [7].

Analytical, diagnostic and therapeutic context of BCOR

  • Indeed, mammalian two-hybrid assays, GST fusion protein pull-down assays, and co-immunoprecipitation assays showed that Sp1ZFDBD and Sp1ID are able to interact with corepressor proteins such as SMRT, NcoR, and BCoR [12].


  1. Molecular cytogenetic characterization of an ins(4;X) occurring as the sole abnormality in an aggressive, poorly differentiated soft tissue sarcoma. Surace, C., Storlazzi, C.T., Engellau, J., Domanski, H.A., Gustafson, P., Panagopoulos, I., D'Addabbo, P., Rocchi, M., Mandahl, N., Mertens, F. Virchows Arch. (2005) [Pubmed]
  2. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Ng, D., Thakker, N., Corcoran, C.M., Donnai, D., Perveen, R., Schneider, A., Hadley, D.W., Tifft, C., Zhang, L., Wilkie, A.O., van der Smagt, J.J., Gorlin, R.J., Burgess, S.M., Bardwell, V.J., Black, G.C., Biesecker, L.G. Nat. Genet. (2004) [Pubmed]
  3. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. Gearhart, M.D., Corcoran, C.M., Wamstad, J.A., Bardwell, V.J. Mol. Cell. Biol. (2006) [Pubmed]
  4. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Horn, D., Chyrek, M., Kleier, S., Lüttgen, S., Bolz, H., Hinkel, G.K., Korenke, G.C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. Eur. J. Hum. Genet. (2005) [Pubmed]
  5. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Mart??nez-Garay, I., Tom??s, M., Oltra, S., Ramser, J., Molt??, M.D., Prieto, F., Meindl, A., Kutsche, K., Mart??nez, F. Eur. J. Hum. Genet. (2007) [Pubmed]
  6. The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor. Srinivasan, R.S., de Erkenez, A.C., Hemenway, C.S. Oncogene (2003) [Pubmed]
  7. Micro-anatomy related antigen expression in melanocytic lesions. Meije, C.B., Mooi, W.J., Le Poole, I.C., Van Muijen, G.N., Das, P.K. J. Pathol. (2000) [Pubmed]
  8. The measurement of soft lens radii by proximity gauging. Port, M.J. Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists). (1983) [Pubmed]
  9. Characterization of SPACR, a sialoprotein associated with cones and rods present in the interphotoreceptor matrix of the human retina: immunological and lectin binding analysis. Acharya, S., Rayborn, M.E., Hollyfield, J.G. Glycobiology (1998) [Pubmed]
  10. Induction of apoptosis by beta-diketones in human tumor cells. Nakano, K., Nakayachi, T., Yasumoto, E., Morshed, S.R., Hashimoto, K., Kikuchi, H., Nishikawa, H., Sugiyama, K., Amano, O., Kawase, M., Sakagami, H. Anticancer Res. (2004) [Pubmed]
  11. Microarray Analysis of Mercury-Induced Changes in Gene Expression in Human Liver Carcinoma (HepG2) Cells: Importance in Immune Responses. Ayensu, W.K., Tchounwou, P.B. International journal of environmental research and public health [electronic resource]. (2006) [Pubmed]
  12. 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. Lee, J.A., Suh, D.C., Kang, J.E., Kim, M.H., Park, H., Lee, M.N., Kim, J.M., Jeon, B.N., Roh, H.E., Yu, M.Y., Choi, K.Y., Kim, K.Y., Hur, M.W. J. Biol. Chem. (2005) [Pubmed]
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