YY1
YY1 (Yin Yang 1)[1] è una proteina trascrizionale presente nell'uomo,[2] codificata dal gene YY1, che agisce sia come repressore che come attivatore, da cui il nome "Yin-Yang".[3][4]
Funzioni
YY1 è un fattore di trascrizione ubiquitario appartenente alla famiglia delle proteine a dita di zinco. La proteina è coinvolta nella repressione e nell'attivazione di un numero diversificato di promotori. Pertanto, la sigla YY nel nome sta per “yin-yang”. YY1 può indirizzare le istone deacetilasi e le istone acetiltransferasi verso un promotore al fine di attivarlo o reprimerlo, implicando così la modificazione degli istoni nella funzione di YY1.[5]
Y1 promuove gli anelli cromatinici enhancer-promotore formando dimeri e favorendo le interazioni del DNA. La sua disregolazione interrompe i loop enhancer-promotore e l'espressione genica.[6][7] YY1 può legare complessi di istone deacetilasi (HDAC), che rimuovono i gruppi acetilici dai residui di lisina degli istoni, favorendo una conformazione della cromatina "chiusa" e inattiva.
Rilevanza clinica
Le delezioni eterozigoti, le mutazioni missenso e nonsense del gene YY1 causano la sindrome di Gabriele-DeVries (GADEVS),[8][9] disturbo dello sviluppo neurologico autosomico dominante caratterizzato da disabilità intellettiva, caratteristiche facciali dismorfiche, problemi di alimentazione, ritardo della crescita intrauterina, deficit cognitivo variabile, problemi comportamentali e altre malformazioni congenite.[7]
È disponibile un sito web per raccogliere e condividere informazioni cliniche tra medici e famiglie delle persone affette dalla malattia.[10]
Interazioni
Sono state dimostrate le seguenti interazioni della YY1:
- ATF6,[11]
- EP300[12][13]
- FKBP3[14]
- HDAC3[12][15]
- istoene deacitalasi 2[12][15][16]
- Myc[17]
- NOTCH1[18]
- RYBP[19] and
- SAP30[20]
- Serina—tRNA ligasi[21]
Note
- ^ Thiaville MM, Kim J, Oncogenic potential of yin yang 1 mediated through control of imprinted genes, in Critical Reviews in Oncogenesis, vol. 16, 3–4, 2011, pp. 199–209, DOI:10.1615/critrevoncog.v16.i3-4.40, PMC 3392609, PMID 22248054.
- ^ Fattore di trascrizione YY1
- ^ Shi Y, Seto E, Chang LS, Shenk T, Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein, in Cell, vol. 67, n. 2, Oct 1991, pp. 377–88, DOI:10.1016/0092-8674(91)90189-6, PMID 1655281.
- ^ Zhu W, Lossie AC, Camper SA, Gumucio DL, Chromosomal localization of the transcription factor YY1 in the mouse and human, in Mammalian Genome, vol. 5, n. 4, Apr 1994, pp. 234–6, DOI:10.1007/BF00360552, PMID 7912122, hdl:2027.42/47010.
- ^ Entrez Gene: YY1 YY1 transcription factor, su ncbi.nlm.nih.gov.
- ^ Weintraub AS, Li CH, Zamudio AV, Sigova AA, Hannett NM, Day DS, Abraham BJ, Cohen MA, Nabet B, Buckley DL, Guo YE, Hnisz D, Jaenisch R, Bradner JE, Gray NS, Young RA, YY1 Is a Structural Regulator of Enhancer-Promoter Loops, in Cell, vol. 171, n. 7, dicembre 2017, pp. 1573–1588. e28, DOI:10.1016/j.cell.2017.11.008, PMC 5785279, PMID 29224777.
- ^ a b Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CR, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JH, van Bon BW, Lelieveld S, Gilissen C, Nillesen WM, Vissers LE, Gecz J, Koolen DA, Testa G, de Vries BB, YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction, in American Journal of Human Genetics, vol. 100, n. 6, giugno 2017, pp. 907–925, DOI:10.1016/j.ajhg.2017.05.006, PMC 5473733, PMID 28575647.
- ^ Gabriele-de Vries Syndrome, in OMIM.
- ^ Nabais Sá MJ, Gabriele M, Testa G, de Vries BB, Gabriele-de Vries Syndrome, in GeneReviews [Internet]., Seattle (WA), University of Washington, Seattle, 1993, PMID 31145572.
- ^ YY1 – Collect information about clinic management and research projects, su YY1.
- ^ Li M, Baumeister P, Roy B, Phan T, Foti D, Luo S, Lee AS, ATF6 as a transcription activator of the endoplasmic reticulum stress element: thapsigargin stress-induced changes and synergistic interactions with NF-Y and YY1, in Molecular and Cellular Biology, vol. 20, n. 14, Jul 2000, pp. 5096–106, DOI:10.1128/mcb.20.14.5096-5106.2000, PMC 85959, PMID 10866666.
- ^ a b c Yao YL, Yang WM, Seto E, Regulation of transcription factor YY1 by acetylation and deacetylation, in Molecular and Cellular Biology, vol. 21, n. 17, Sep 2001, pp. 5979–91, DOI:10.1128/mcb.21.17.5979-5991.2001, PMC 87316, PMID 11486036.
- ^ Lee JS, Galvin KM, See RH, Eckner R, Livingston D, Moran E, Shi Y, Relief of YY1 transcriptional repression by adenovirus E1A is mediated by E1A-associated protein p300, in Genes & Development, vol. 9, n. 10, maggio 1995, pp. 1188–98, DOI:10.1101/gad.9.10.1188, PMID 7758944.
- ^ Yang WM, Yao YL, Seto E, The FK506-binding protein 25 functionally associates with histone deacetylases and with transcription factor YY1, in The EMBO Journal, vol. 20, n. 17, Sep 2001, pp. 4814–25, DOI:10.1093/emboj/20.17.4814, PMC 125595, PMID 11532945.
- ^ a b Yang WM, Yao YL, Sun JM, Davie JR, Seto E, Isolation and characterization of cDNAs corresponding to an additional member of the human histone deacetylase gene family, in The Journal of Biological Chemistry, vol. 272, n. 44, Oct 1997, pp. 28001–7, DOI:10.1074/jbc.272.44.28001, PMID 9346952.
- ^ Kalenik JL, Chen D, Bradley ME, Chen SJ, Lee TC, Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1, in Nucleic Acids Research, vol. 25, n. 4, Feb 1997, pp. 843–9, DOI:10.1093/nar/25.4.843, PMC 146511, PMID 9016636.
- ^ Shrivastava A, Saleque S, Kalpana GV, Artandi S, Goff SP, Calame K, Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc, in Science, vol. 262, n. 5141, Dec 1993, pp. 1889–92, Bibcode:1993Sci...262.1889S, DOI:10.1126/science.8266081, PMID 8266081.
- ^ Yeh TS, Lin YM, Hsieh RH, Tseng MJ, Association of transcription factor YY1 with the high molecular weight Notch complex suppresses the transactivation activity of Notch, in The Journal of Biological Chemistry, vol. 278, n. 43, Oct 2003, pp. 41963–9, DOI:10.1074/jbc.M304353200, PMID 12913000.
- ^ García E, Marcos-Gutiérrez C, del Mar Lorente M, Moreno JC, Vidal M, RYBP, a new repressor protein that interacts with components of the mammalian Polycomb complex, and with the transcription factor YY1, in The EMBO Journal, vol. 18, n. 12, Jun 1999, pp. 3404–18, DOI:10.1093/emboj/18.12.3404, PMC 1171420, PMID 10369680.
- ^ Huang NE, Lin CH, Lin YS, Yu WC, Modulation of YY1 activity by SAP30, in Biochemical and Biophysical Research Communications, vol. 306, n. 1, Jun 2003, pp. 267–75, Bibcode:2003BBRC..306..267H, DOI:10.1016/s0006-291x(03)00966-5, PMID 12788099.
- ^ Fu CY, Wang P, Tsai HJ, Competitive binding between Seryl-tRNA synthetase/YY1 complex and NFKB1 at the distal segment results in differential regulation of human vegfa promoter activity during angiogenesis, in Nucleic Acids Research, vol. 45, n. 5, Nov 2017, pp. 2423–2437, DOI:10.1093/nar/gkw1187, PMC 5389716, PMID 27913726.
Bibliografia
- Thomas MJ, Seto E, Unlocking the mechanisms of transcription factor YY1: are chromatin modifying enzymes the key?, in Gene, vol. 236, n. 2, Aug 1999, pp. 197–208, DOI:10.1016/S0378-1119(99)00261-9, PMID 10452940.
- Park K, Atchison ML, Isolation of a candidate repressor/activator, NF-E1 (YY-1, delta), that binds to the immunoglobulin kappa 3' enhancer and the immunoglobulin heavy-chain mu E1 site, in Proceedings of the National Academy of Sciences of the United States of America, vol. 88, n. 21, Nov 1991, pp. 9804–8, Bibcode:1991PNAS...88.9804P, DOI:10.1073/pnas.88.21.9804, PMC 52809, PMID 1946405.
- Yang WM, Inouye CJ, Seto E, Cyclophilin A and FKBP12 interact with YY1 and alter its transcriptional activity, in The Journal of Biological Chemistry, vol. 270, n. 25, Jun 1995, pp. 15187–93, DOI:10.1074/jbc.270.25.15187, PMID 7541038.
- Lee JS, Galvin KM, See RH, Eckner R, Livingston D, Moran E, Shi Y, Relief of YY1 transcriptional repression by adenovirus E1A is mediated by E1A-associated protein p300, in Genes & Development, vol. 9, n. 10, maggio 1995, pp. 1188–98, DOI:10.1101/gad.9.10.1188, PMID 7758944.
- Zhou Q, Gedrich RW, Engel DA, Transcriptional repression of the c-fos gene by YY1 is mediated by a direct interaction with ATF/CREB, in Journal of Virology, vol. 69, n. 7, Jul 1995, pp. 4323–30, DOI:10.1128/JVI.69.7.4323-4330.1995, PMC 189172, PMID 7769693.
- Shrivastava A, Saleque S, Kalpana GV, Artandi S, Goff SP, Calame K, Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc, in Science, vol. 262, n. 5141, Dec 1993, pp. 1889–92, Bibcode:1993Sci...262.1889S, DOI:10.1126/science.8266081, PMID 8266081.
- Becker KG, Swergold GD, Ozato K, Thayer RE, Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element, in Human Molecular Genetics, vol. 2, n. 10, Oct 1993, pp. 1697–702, DOI:10.1093/hmg/2.10.1697, PMID 8268924.
- Margolis DM, Somasundaran M, Green MR, Human transcription factor YY1 represses human immunodeficiency virus type 1 transcription and virion production, in Journal of Virology, vol. 68, n. 2, Feb 1994, pp. 905–10, DOI:10.1128/JVI.68.2.905-910.1994, PMC 236527, PMID 8289393.
- Lee JS, Galvin KM, Shi Y, Evidence for physical interaction between the zinc-finger transcription factors YY1 and Sp1, in Proceedings of the National Academy of Sciences of the United States of America, vol. 90, n. 13, Jul 1993, pp. 6145–9, Bibcode:1993PNAS...90.6145L, DOI:10.1073/pnas.90.13.6145, PMC 46884, PMID 8327494.
- Yang WM, Inouye C, Zeng Y, Bearss D, Seto E, Transcriptional repression by YY1 is mediated by interaction with a mammalian homolog of the yeast global regulator RPD3, in Proceedings of the National Academy of Sciences of the United States of America, vol. 93, n. 23, Nov 1996, pp. 12845–50, Bibcode:1996PNAS...9312845Y, DOI:10.1073/pnas.93.23.12845, PMC 24008, PMID 8917507.
- Houbaviy HB, Usheva A, Shenk T, Burley SK, Cocrystal structure of YY1 bound to the adeno-associated virus P5 initiator, in Proceedings of the National Academy of Sciences of the United States of America, vol. 93, n. 24, Nov 1996, pp. 13577–82, Bibcode:1996PNAS...9313577H, DOI:10.1073/pnas.93.24.13577, PMC 19349, PMID 8942976.
- Kalenik JL, Chen D, Bradley ME, Chen SJ, Lee TC, Yeast two-hybrid cloning of a novel zinc finger protein that interacts with the multifunctional transcription factor YY1, in Nucleic Acids Research, vol. 25, n. 4, Feb 1997, pp. 843–9, DOI:10.1093/nar/25.4.843, PMC 146511, PMID 9016636.
- Cole EG, Gaston K, A functional YY1 binding site is necessary and sufficient to activate Surf-1 promoter activity in response to serum growth factors, in Nucleic Acids Research, vol. 25, n. 18, Sep 1997, pp. 3705–11, DOI:10.1093/nar/25.18.3705, PMC 146936, PMID 9278494.
- Yang WM, Yao YL, Sun JM, Davie JR, Seto E, Isolation and characterization of cDNAs corresponding to an additional member of the human histone deacetylase gene family, in The Journal of Biological Chemistry, vol. 272, n. 44, Oct 1997, pp. 28001–7, DOI:10.1074/jbc.272.44.28001, PMID 9346952.
- Romerio F, Gabriel MN, Margolis DM, Repression of human immunodeficiency virus type 1 through the novel cooperation of human factors YY1 and LSF, in Journal of Virology, vol. 71, n. 12, Dec 1997, pp. 9375–82, DOI:10.1128/JVI.71.12.9375-9382.1997, PMC 230241, PMID 9371597.
- McNeil S, Guo B, Stein JL, Lian JB, Bushmeyer S, Seto E, Atchison ML, Penman S, van Wijnen AJ, Stein GS, Targeting of the YY1 transcription factor to the nucleolus and the nuclear matrix in situ: the C-terminus is a principal determinant for nuclear trafficking, in Journal of Cellular Biochemistry, vol. 68, n. 4, Mar 1998, pp. 500–10, DOI:10.1002/(SICI)1097-4644(19980315)68:4<500::AID-JCB9>3.0.CO;2-U, PMID 9493912.
- Viles JH, Patel SU, Mitchell JB, Moody CM, Justice DE, Uppenbrink J, Doyle PM, Harris CJ, Sadler PJ, Thornton JM, Design, synthesis and structure of a zinc finger with an artificial beta-turn, in Journal of Molecular Biology, vol. 279, n. 4, Jun 1998, pp. 973–86, DOI:10.1006/jmbi.1998.1764, PMID 9642075.
- Yao YL, Dupont BR, Ghosh S, Fang Y, Leach RJ, Seto E, Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1, in Nucleic Acids Research, vol. 26, n. 16, Aug 1998, pp. 3776–83, DOI:10.1093/nar/26.16.3776, PMC 147783, PMID 9685495.
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