Biology:MED12
From HandWiki
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 Intellectual disability, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.[2]
Mutations in MED12 are associated with uterine leiomyomas[3] and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).[4]
Interactions
MED12 has been shown to interact with:
- Calcitriol receptor,[5]
- Cyclin-dependent kinase 8[5][6]
- Estrogen receptor alpha,[6]
- Gli3, G9a, PPARGC1A,[7]
- MED26,[8]
- SOX9,[9] and
- Thyroid hormone receptor alpha.[5]
References
- ↑ "Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9968.
- ↑ "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer". Nature Genetics 44 (6): 685–9. Jun 2012. doi:10.1038/ng.2279. PMID 22610119. PMC 3673022. http://dspace.mit.edu/bitstream/1721.1/84658/1/Lander_Exome%20sequencing.pdf.
- ↑ "Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas". Human Mutation 35 (9): 1136–41. Sep 2014. doi:10.1002/humu.22612. PMID 24980722.
- ↑ "MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast". Histopathology 67 (5): 719–29. Nov 2015. doi:10.1111/his.12712. PMID 25855048.
- ↑ 5.0 5.1 5.2 "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Molecular Cell 3 (3): 361–70. Mar 1999. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638.
- ↑ 6.0 6.1 "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". Proceedings of the National Academy of Sciences of the United States of America 99 (5): 2642–7. Mar 2002. doi:10.1073/pnas.261715899. PMID 11867769. Bibcode: 2002PNAS...99.2642K.
- ↑ "Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha". Molecular Cell 12 (5): 1137–49. Nov 2003. doi:10.1016/S1097-2765(03)00391-5. PMID 14636573.
- ↑ "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Molecular Cell 14 (5): 685–91. Jun 2004. doi:10.1016/j.molcel.2004.05.006. PMID 15175163.
- ↑ "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Research 30 (14): 3245–52. Jul 2002. doi:10.1093/nar/gkf443. PMID 12136106.
Further reading
- "Ligand induction of a transcriptionally active thyroid hormone receptor coactivator complex". Proceedings of the National Academy of Sciences of the United States of America 93 (16): 8329–33. Aug 1996. doi:10.1073/pnas.93.16.8329. PMID 8710870. Bibcode: 1996PNAS...93.8329F.
- "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 Research 3 (1): 17–24. Feb 1996. doi:10.1093/dnares/3.1.17. PMID 8724849.
- "Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle". Diabetologia 39 (6): 725–30. Jun 1996. doi:10.1007/BF00418545. PMID 8781769.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. Sep 1996. doi:10.1101/gr.6.9.791. PMID 8889548.
- "cDNAs with long CAG trinucleotide repeats from human brain". Human Genetics 100 (1): 114–22. Jul 1997. doi:10.1007/s004390050476. PMID 9225980.
- "Association of an X-chromosome dodecamer insertional variant allele with mental retardation". Molecular Psychiatry 3 (4): 303–9. Jul 1998. doi:10.1038/sj.mp.4000442. PMID 9702738.
- "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Molecular Cell 3 (3): 361–70. Mar 1999. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638.
- "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex". Nature 398 (6730): 824–8. Apr 1999. doi:10.1038/19783. PMID 10235266. Bibcode: 1999Natur.398..824R.
- "Composite co-activator ARC mediates chromatin-directed transcriptional activation". Nature 398 (6730): 828–32. Apr 1999. doi:10.1038/19789. PMID 10235267. Bibcode: 1999Natur.398..828N.
- "The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)". Human Genetics 105 (1–2): 174–8. 1999. doi:10.1007/s004399900084. PMID 10480376.
- "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3". American Journal of Human Genetics 69 (4): 673–84. Oct 2001. doi:10.1086/323610. PMID 11524702.
- "Association studies of the HOPA dodecamer duplication variant in different subtypes of autism". American Journal of Medical Genetics 114 (1): 110–5. Jan 2002. doi:10.1002/ajmg.1613. PMID 11840515.
- "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Molecular Medicine 8 (1): 56–64. Jan 2002. doi:10.1007/BF03402003. PMID 11984006.
- "Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis". Nature 417 (6888): 563–7. May 2002. doi:10.1038/417563a. PMID 12037571. Bibcode: 2002Natur.417..563G.
- "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Research 30 (14): 3245–52. Jul 2002. doi:10.1093/nar/gkf443. PMID 12136106.
- "A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression". The Journal of Biological Chemistry 277 (45): 42852–8. Nov 2002. doi:10.1074/jbc.M206061200. PMID 12218053.
- "Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3". The Journal of Biological Chemistry 278 (17): 15123–7. Apr 2003. doi:10.1074/jbc.C300054200. PMID 12584197.
- "Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation". Molecular and Cellular Biology 23 (6): 2055–67. Mar 2003. doi:10.1128/MCB.23.6.2055-2067.2003. PMID 12612078.
- "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Molecular Biology and Evolution 20 (8): 1281–9. Aug 2003. doi:10.1093/molbev/msg134. PMID 12777533.
- "Mediator modulates Gli3-dependent Sonic hedgehog signaling". Molecular and Cellular Biology 26 (23): 8667–82. Dec 2006. doi:10.1128/MCB.00443-06. PMID 17000779.
- "MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling". Proceedings of the National Academy of Sciences of the United States of America 109 (48): 19763–8. Nov 2012. doi:10.1073/pnas.1121120109. PMID 23091001.
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