Citations for
1COGIS, EED, EZH2, IMMAS, SUZ12, WVSS2
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R.
Am J Hum Genet. May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. 2020
2IMMAS, SUZ12
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT
Am J Med Genet C Semin Med Genet. Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. 2019
3IMMAS, SUZ12
Novel SUZ12 mutations in Weaver-like syndrome.
Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.
Clin Genet. Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6 2018
4EZH1, SUZ12, UXT
The EZH1-SUZ12 complex positively regulates the transcription of NF-κB target genes through interaction with UXT.
Su SK, Li CY, Lei PJ, Wang X, Zhao QY, Cai Y, Wang Z, Li L, Wu M.
J Cell Sci 129(12):2343-53. doi: 10.1242/jcs.185546. Epub 2016 Apr 28. 2016
5MTF2, PHF1, PHF19, SUZ12
Tudor domains of the PRC2 components PHF1 and PHF19 selectively bind to histone H3K36me3.
Qin S, Guo Y, Xu C, Bian C, Fu M, Gong S, Min J.
Biochem Biophys Res Commun 430(2):547-53. doi: 10.1016/j.bbrc.2012.11.116. Epub 2012 Dec 7. 2013
6HRK, SUZ12
SUZ12 promotes human epithelial ovarian cancer by suppressing apoptosis via silencing HRK.
Li H, Cai Q, Wu H, Vathipadiekal V, Dobbin ZC, Li T, Hua X, Landen CN, Birrer MJ, Sánchez-Beato M, Zhang R.
Mol Cancer Res 10(11):1462-72. doi: 10.1158/1541-7786.MCR-12-0335. Epub 2012 Sep 10. 2012
7SUZ12
SUZ12 is a candidate target of the non-canonical WNT pathway in the progression of chronic myeloid leukemia.
Pizzatti L, Binato R, Cofre J, Gomes BE, Dobbin J, Haussmann ME, D'Azambuja D, Bouzas LF, Abdelhay E.
Genes Chromosomes Cancer 49(2):107-18.PMID: 19847889 2010
8EED, EZH2, RBBP4, SUZ12
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.
Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC.
Nat Genet 42(8):722-6. Epub 2010 Jul 4.PMID: 20601953 2010
9EED, EZH2, RBBP7, SUZ12
Binding of different histone marks differentially regulates the activity and specificity of polycomb repressive complex 2 (PRC2).
Xu C, Bian C, Yang W, Galka M, Ouyang H, Chen C, Qiu W, Liu H, Jones AE, MacKenzie F, Pan P, Li SS, Wang H, Min J.
Proc Natl Acad Sci U S A 107(45):19266-71. Epub 2010 Oct 25. 2010
10CEBPD, SUZ12, YY1
Epigenetic silencing of CCAAT/enhancer-binding protein delta activity by YY1/polycomb group/DNA methyltransferase complex.
Ko CY, Hsu HC, Shen MR, Chang WC, Wang JM.
J Biol Chem 283(45):30919-32. Epub 2008 Aug 27.PMID: 18753137 2008
11SNAI1, SUZ12
Polycomb complex 2 is required for E-cadherin repression by the Snail1 transcription factor.
Herranz N, Pasini D, Díaz VM, Francí C, Gutierrez A, Dave N, Escrivà M, Hernandez-Muñoz I, Di Croce L, Helin K, García de Herreros A, Peiró S.
Mol Cell Biol 28(15):4772-81. Epub 2008 Jun 2.PMID: 18519590 2008
12ADAP2, ATAD5, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, RNF135, SUZ12, TEFM, UTP6
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.
Nat Genet 39(8):963-5. Epub 2007 Jul 15. 2007
13JAZF1, SUZ12
Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival.
Li H, Ma X, Wang J, Koontz J, Nucci M, Sklar J.
Proc Natl Acad Sci U S A 104(50):20001-6. Epub 2007 Dec 6. 2007
14SUZ12
The polycomb group protein SUZ12 regulates histone H3 lysine 9 methylation and HP1 alpha distribution.
de la Cruz CC, Kirmizis A, Simon MD, Isono K, Koseki H, Panning B.
Chromosome Res 15(3):299-314. Epub 2007 May 10. 2007
15WDR77, PRMT5, SUZ12
Association of Polycomb group SUZ12 with WD-repeat protein MEP50 that binds to histone H2A selectively in vitro.
Furuno K, Masatsugu T, Sonoda M, Sasazuki T, Yamamoto K.
Biochem Biophys Res Commun 345(3):1051-8. Epub 2006 May 11. 2006
16NF1, NF1DEL, SUZ12, JJAZP, LRRC49, RAB11FIP4, UTP6
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.
Am J Hum Genet 75(3):410-23. Epub 2004 Jul 15. 2004
17MAP3K7, JAZF1, SUZ12
TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4.
Nakajima T, Fujino S, Nakanishi G, Kim YS, Jetten AM.
Nucleic Acids Res 32(14):4194-204. Print 2004. 2004
18SUZ12, NF1, NF1DEL
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.
J Med Genet 40(7):520-5. No abstract available. 2003
19SUZ12, JAZF1
Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17).
Micci F, Walter CU, Teixeira MR, Panagopoulos I, Bjerkehagen B, Saeter G, Heim S.
Cancer Genet Cytogenet 144(2):119-24. 2003
20COL1A1, DDIT3, EWSR1, SUZ12, JAZF1, NR4A3, WT1
Cytogenetics and molecular genetics of bone and soft-tissue tumors.
Sandberg AA.
Am J Med Genet 115(3):189-93. 2002
21SUZ12
Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein.
Kuzmichev A, Nishioka K, Erdjument-Bromage H, Tempst P, Reinberg D.
Genes Dev 16(22):2893-905.PMID: 12435631 2002
22SUZ12
Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.
Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Cin PD, Fletcher JA, Sklar J.
Proc Natl Acad Sci U S A 98(11):6348-53. 2001