MED25
Mediator of RNA polymerase II transcription subunit 25 is an enzyme that in humans is encoded by the MED25 gene.[5][6][7]
Intellectual developmental disorder
[edit]A homozygous variant in the MED25 gene, leading to an arginine to trypsin substitution, was identified in seven individuals with impaired intellectual development and characteristic facial features.[8] The genetic variant segregated with the disorder and was not found in control populations. This putative homozygous variant arose 218 years ago in this Brazilian family.[9]
Interactions
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000104973 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002968 – Ensembl, May 2017
- ↑ "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.
- ↑ Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- ↑ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- ↑ "Entrez Gene: MED25 mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)".
- ↑ Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, et al. (February 2015). "Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family". Journal of Medical Genetics. 52 (2): 123–127. doi:10.1136/jmedgenet-2014-102793. PMID 25527630.
- ↑ de Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, et al. (November 2018). "Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations". Scientific Reports. 8 (1) 16552. Bibcode:2018NatSR...816552D. doi:10.1038/s41598-018-35022-1. PMC 6224410. PMID 30410084.
- ↑ Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens L, et al. (February 2004). "A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2". The Journal of Biological Chemistry. 279 (7): 5846–5851. doi:10.1074/jbc.M312523200. PMID 14638676.
Further reading
[edit]- Näär AM, Beaurang PA, Zhou S, Abraham S, Solomon W, Tjian R (April 1999). "Composite co-activator ARC mediates chromatin-directed transcriptional activation". Nature. 398 (6730): 828–832. Bibcode:1999Natur.398..828N. doi:10.1038/19789. PMID 10235267. S2CID 23646963.
- Wang C, McCarty IM, Balazs L, Li Y, Steiner MS (August 2002). "A prostate-derived cDNA that is mapped to human chromosome 19 encodes a novel protein". Biochemical and Biophysical Research Communications. 296 (2): 281–287. Bibcode:2002BBRC..296..281W. doi:10.1016/S0006-291X(02)00872-0. PMID 12163014.
- Sato S, Tomomori-Sato C, Banks CA, Parmely TJ, Sorokina I, Brower CS, et al. (December 2003). "A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex". The Journal of Biological Chemistry. 278 (50): 49671–49674. doi:10.1074/jbc.C300444200. PMID 14576168.
- Mittler G, Stühler T, Santolin L, Uhlmann T, Kremmer E, Lottspeich F, et al. (December 2003). "A novel docking site on Mediator is critical for activation by VP16 in mammalian cells". The EMBO Journal. 22 (24): 6494–6504. doi:10.1093/emboj/cdg619. PMC 291814. PMID 14657022.
- Yang F, DeBeaumont R, Zhou S, Näär AM (February 2004). "The activator-recruited cofactor/Mediator coactivator subunit ARC92 is a functionally important target of the VP16 transcriptional activator". Proceedings of the National Academy of Sciences of the United States of America. 101 (8): 2339–2344. Bibcode:2004PNAS..101.2339Y. doi:10.1073/pnas.0308676100. PMC 356952. PMID 14983011.
- Sato S, Tomomori-Sato C, Parmely TJ, Florens L, Zybailov B, Swanson SK, et al. (June 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Molecular Cell. 14 (5): 685–691. doi:10.1016/j.molcel.2004.05.006. PMID 15175163.
- Zhang X, Krutchinsky A, Fukuda A, Chen W, Yamamura S, Chait BT, et al. (July 2005). "MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription". Molecular Cell. 19 (1): 89–100. doi:10.1016/j.molcel.2005.05.015. PMID 15989967.
- Lee HK, Park UH, Kim EJ, Um SJ (August 2007). "MED25 is distinct from TRAP220/MED1 in cooperating with CBP for retinoid receptor activation". The EMBO Journal. 26 (15): 3545–3557. doi:10.1038/sj.emboj.7601797. PMC 1949011. PMID 17641689.
External links
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