인간유전자
BCL-6 코어프레스기 는 인간에게 BCOR 유전자 에 의해 암호화된 단백질 이다.[5] [6]
함수 이 유전자에 의해 인코딩된 단백질은 발생 중심 형성에 필요하며 사멸에 영향을 미칠 수 있는 POZ/Zinc 핑거 전사 억제기인 BCL6의 상호작용 코어 압착기로 확인되었다. 이 단백질은 선택적으로 BCL6의 POZ 영역과 상호작용하지만, 다른 8개의 POZ 단백질과는 상호작용하지 않는다. 특정 등급 I 및 II 히스톤 디아세틸라제(HDAC)가 이 단백질과 상호작용하는 것으로 나타났으며, 이는 두 등급의 HDAC 간에 가능한 연관성을 시사한다. 다른 ISO 형태를 인코딩하는 적어도 4개의 다른 분할 대본 변형이 이 유전자에 대해 보고되었다.[6]
임상적 유의성 BCOR 유전자의 돌연변이는 MCOPS2라고 불리는 일종의 신드롬 마이크탈증을 유발한다.이 증후군은 마이크탈혈증, 선천성 백내장, 심장 결함, 치아 결함, 골격 이상 등을 포함한다. 이 유전자의 돌연변이는 급성 골수성 백혈병과 관련된 것도 발견되었다.[7]
상호작용 BCOR은 MLLT3 [8] BCL6 와 상호작용 하는 것으로 나타났다.[5]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000183337 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000040363 - 앙상블 , 2017년 5월^ "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 .
추가 읽기 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 . 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 . 외부 링크
