EHMT1
Euchromatic histone-lysine N-methyltransferase 1 is a protein that in humans is encoded by the EHMT1 gene.[1]
Function
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition.[1]
Clinical significance
Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome).[1]
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: Euchromatic histone-lysine N-methyltransferase 1". Retrieved 2012-03-04.
Further reading
- Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y (May 2002). "A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells". Science (New York, N.Y.) 296 (5570): 1132–1136. doi:10.1126/science.1069861. PMID 12004135.
- Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP et al. (Apr 2005). "Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome". Journal of Medical Genetics 42 (4): 299–306. doi:10.1136/jmg.2004.028464. PMC 1736026. PMID 15805155.
- Cebrian A, Pharoah PD, Ahmed S, Ropero S, Fraga MF, Smith PL et al. (Aug 2006). "Genetic variants in epigenetic genes and breast cancer risk". Carcinogenesis 27 (8): 1661–1669. doi:10.1093/carcin/bgi375. PMID 16501248. Check date values in:
|year= / |date= mismatch(help) - Ueda J, Tachibana M, Ikura T, Shinkai Y (Jul 2006). "Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP". The Journal of Biological Chemistry 281 (29): 20120–20128. doi:10.1074/jbc.M603087200. PMID 16702210.
- Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A et al. (Aug 2006). "Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome". American Journal of Human Genetics 79 (2): 370–377. doi:10.1086/505693. PMC 1559478. PMID 16826528.
- Heo K, Kim B, Kim K, Choi J, Kim H, Zhan Y et al. (May 2007). "Isolation and characterization of proteins associated with histone H3 tails in vivo". The Journal of Biological Chemistry 282 (21): 15476–15483. doi:10.1074/jbc.M610270200. PMID 17403666.
- Collins RE, Northrop JP, Horton JR, Lee DY, Zhang X, Stallcup MR et al. (Mar 2008). "The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules". Nature Structural & Molecular Biology 15 (3): 245–250. doi:10.1038/nsmb.1384. PMC 2586904. PMID 18264113.
- Shirato H, Ogawa S, Nakajima K, Inagawa M, Kojima M, Tachibana M et al. (Jan 2009). "A jumonji (Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9". The Journal of Biological Chemistry 284 (2): 733–739. doi:10.1074/jbc.M804994200. PMID 19010785. Check date values in:
|year= / |date= mismatch(help) - Biron VL, Dort JC (Jun 2008). "Epigenetic perspective into head and neck cancer through in silico gene expression profiling of histone lysine methyltransferases". Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale 37 (3): 366–372. PMID 19128641.
- Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N et al. (Sep 2009). "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics 46 (9): 598–606. doi:10.1136/jmg.2008.062950. PMID 19264732.
- Ohno H, Shinoda K, Ohyama K, Sharp LZ, Kajimura S (Dec 2013). "EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex". Nature 504 (7478): 163–7. doi:10.1038/nature12652. PMC 3855638. PMID 24196706.