MED12
Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.[1]
Clinical significance
Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.[2]
Mutations in MED12 are associated to uterine leiomyomas .[3]
Interactions
MED12 has been shown to interact with:
- Calcitriol receptor,[4][5]
- Cyclin-dependent kinase 8[4][6]
- Estrogen receptor alpha,[6]
- Gli3, G9a, PPARGC1A,[7]
- MED26,[8]
- SOX9,[9] and
- Thyroid hormone receptor alpha.[4]
References
- ↑ "Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)".
- ↑ Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (June 2012). "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer". Nat. Genet. 44 (6): 685–9. doi:10.1038/ng.2279. PMC 3673022. PMID 22610119.
- ↑ Kämpjärvi, K; Park, M. J.; Mehine, M; Kim, N. H.; Clark, A. D.; Bützow, R; Böhling, T; Böhm, J; Mecklin, J. P.; Järvinen, H; Tomlinson, I. P.; Van Der Spuy, Z. M.; Sjöberg, J; Boyer, T. G.; Vahteristo, P (2014). "Mutations in Exon 1 Highlight the Role of MED12 in Uterine Leiomyomas". Human Mutation 35: 1136–41. doi:10.1002/humu.22612. PMID 24980722.
- ↑ 4.0 4.1 4.2 Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG (March 1999). "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Mol. Cell 3 (3): 361–70. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638.
- ↑ Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell 113 (7): 905–17. doi:10.1016/S0092-8674(03)00436-7. PMID 12837248.
- ↑ 6.0 6.1 Kang YK, Guermah M, Yuan CX, Roeder RG (March 2002). "The TRAP/Mediator coactivator complex interacts directly with estrogen receptors alpha and beta through the TRAP220 subunit and directly enhances estrogen receptor function in vitro". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 2642–7. doi:10.1073/pnas.261715899. PMC 122401. PMID 11867769.
- ↑ Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG (November 2003). "Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha". Mol. Cell 12 (5): 1137–49. doi:10.1016/S1097-2765(03)00391-5. PMID 14636573.
- ↑ Sato S, Tomomori-Sato C, Parmely TJ, Florens L, Zybailov B, Swanson SK, Banks CA, Jin J, Cai Y, Washburn MP, Conaway JW, Conaway RC (June 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Mol. Cell 14 (5): 685–91. doi:10.1016/j.molcel.2004.05.006. PMID 15175163.
- ↑ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (July 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106.
Further reading
- Fondell JD, Ge H, Roeder RG (1996). "Ligand induction of a transcriptionally active thyroid hormone receptor coactivator complex". Proc. Natl. Acad. Sci. U.S.A. 93 (16): 8329–8333. doi:10.1073/pnas.93.16.8329. PMC 38670. PMID 8710870.
- Nagase T; Seki N; Ishikawa K et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
- Yamagata K; Takeda J; Menzel S et al. (1996). "Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle". Diabetologia 39 (6): 725–730. doi:10.1007/BF00418545. PMID 8781769.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Margolis RL; Abraham MR; Gatchell SB et al. (1997). "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980.
- Philibert RA; King BH; Winfield S et al. (1998). "Association of an X-chromosome dodecamer insertional variant allele with mental retardation". Mol. Psychiatry 3 (4): 303–309. doi:10.1038/sj.mp.4000442. PMID 9702738.
- Ito M; Yuan CX; Malik S et al. (1999). "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Mol. Cell 3 (3): 361–370. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638.
- Rachez C; Lemon BD; Suldan Z et al. (1999). "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex". Nature 398 (6730): 824–828. doi:10.1038/19783. PMID 10235266.
- Näär AM; Beaurang PA; Zhou S et al. (1999). "Composite co-activator ARC mediates chromatin-directed transcriptional activation". Nature 398 (6730): 828–832. doi:10.1038/19789. PMID 10235267.
- Philibert RA; Winfield SL; Damschroder-Williams P et al. (1999). "The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)". Hum. Genet. 105 (1–2): 174–178. doi:10.1007/s004390051084. PMID 10480376.
- Joensuu T; Hämäläinen R; Yuan B et al. (2001). "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3". Am. J. Hum. Genet. 69 (4): 673–684. doi:10.1086/323610. PMC 1226054. PMID 11524702.
- Beyer KS; Klauck SM; Benner A et al. (2002). "Association studies of the HOPA dodecamer duplication variant in different subtypes of autism". Am. J. Med. Genet. 114 (1): 110–115. doi:10.1002/ajmg.1613. PMID 11840515.
- Tchernev VT; Mansfield TA; Giot L et al. (2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Mol. Med. 8 (1): 56–64. PMC 2039936. PMID 11984006.
- Ge K; Guermah M; Yuan CX et al. (2002). "Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis". Nature 417 (6888): 563–567. doi:10.1038/417563a. PMID 12037571.
- Zhou R; Bonneaud N; Yuan CX et al. (2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–3252. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106.
- Wang Q, Sharma D, Ren Y, Fondell JD (2003). "A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression". J. Biol. Chem. 277 (45): 42852–42858. doi:10.1074/jbc.M206061200. PMID 12218053.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Sato S; Tomomori-Sato C; Banks CA et al. (2003). "Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3". J. Biol. Chem. 278 (17): 15123–15127. doi:10.1074/jbc.C300054200. PMID 12584197.
- Gwack Y; Baek HJ; Nakamura H et al. (2003). "Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation". Mol. Cell. Biol. 23 (6): 2055–2067. doi:10.1128/MCB.23.6.2055-2067.2003. PMC 149486. PMID 12612078.
- Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–1289. doi:10.1093/molbev/msg134. PMID 12777533.
- H Zhou, S Kim, S Ishii, and T G Boyer, (2006). "Mediator Modulates Gli3-Dependent Sonic Hedgehog Signaling". Mol Cell Biol. 26 (23): 8667–8682. doi:10.1128/MCB.00443-06. PMC 1636813. PMID 17000779.
- H Zhou, J M Spaeth,NH Kim,X Xu,MJ Friez,CE Schwartz, and TG Boyer, (2012). "MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling". PNAS 109 (48): 19763–19768. doi:10.1073/pnas.1121120109. PMC 3511715. PMID 23091001.