DNMT3L
DNMT3L（DNA (cytosine-5)-methyltransferase 3-like）は、ヒトではDNMT3L遺伝子によってコードされるタンパク質である[5][6]。
機能
CpGのメチル化は、胚発生、インプリンティング、X染色体の不活性化に重要なエピジェネティック修飾である。マウスでの研究では、DNAのメチル化は哺乳類の発生に必要であることが実証されている。DNMT3L遺伝子は、DNAメチルトランスフェラーゼに類似した核内タンパク質をコードする。このDNMT3Lタンパク質はメチルトランスフェラーゼ活性に必要なアミノ酸残基を持たないため、DNAメチルトランスフェラーゼとしては機能しないと考えられている。しかしながら、このタンパク質はDNMT3Aによるde novoメチル化を促進し、母親由来のゲノムインプリンティングの確立に必要であると考えられている。また、このタンパク質はHDAC1との相互作用を介して転写抑制を媒介する。この遺伝子からは選択的スプライシングによって、2種類の転写バリアントが生じる。他のスプライシングバリアントも記載されているが、その生物学的妥当性は明らかではない[6]。
出典
- GRCh38: Ensembl release 89: ENSG00000142182 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000000730 - Ensembl, May 2017
- Human PubMed Reference:
- Mouse PubMed Reference:
- “Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family”. Genomics 65 (3): 293–8. (August 2000). doi:10.1006/geno.2000.6168. PMID 10857753.
- “Entrez Gene: DNMT3L DNA (cytosine-5-)-methyltransferase 3-like”. 2021年8月7日閲覧。
- “Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity”. Nucleic Acids Res. 30 (16): 3602–8. (2002). doi:10.1093/nar/gkf474. PMC 134241. PMID 12177302.
- “Dnmt3L is a transcriptional repressor that recruits histone deacetylase”. Nucleic Acids Res. 30 (17): 3831–8. (September 2002). doi:10.1093/nar/gkf509. PMC 137431. PMID 12202768.
関連文献
- Hattori M; Fujiyama A; Taylor TD et al. (2000). “The DNA sequence of human chromosome 21”. Nature 405 (6784): 311–9. Bibcode: 2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
- “Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice”. Development 129 (8): 1983–93. (2002). PMID 11934864.
- “DNA methyltransferases get connected to chromatin”. Trends Genet. 18 (6): 275–7. (2002). doi:10.1016/S0168-9525(02)02667-7. PMID 12044346.
- “Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity”. Nucleic Acids Res. 30 (16): 3602–8. (2002). doi:10.1093/nar/gkf474. PMC 134241. PMID 12177302.
- Deplus R; Brenner C; Burgers WA et al. (2002). “Dnmt3L is a transcriptional repressor that recruits histone deacetylase”. Nucleic Acids Res. 30 (17): 3831–8. doi:10.1093/nar/gkf509. PMC 137431. PMID 12202768.
- Kierszenbaum AL (2003). “Genomic imprinting and epigenetic reprogramming: unearthing the garden of forking paths”. Mol. Reprod. Dev. 63 (3): 269–72. doi:10.1002/mrd.90011. PMID 12237941.
- 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): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- “The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16916–21. (2003). doi:10.1073/pnas.262443999. PMC 139244. PMID 12481029.
- Huntriss J; Hinkins M; Oliver B et al. (2004). “Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells”. Mol. Reprod. Dev. 67 (3): 323–36. doi:10.1002/mrd.20030. PMID 14735494.
- Suetake I; Shinozaki F; Miyagawa J et al. (2004). “DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction”. J. Biol. Chem. 279 (26): 27816–23. doi:10.1074/jbc.M400181200. PMID 15105426.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rual JF; Venkatesan K; Hao T et al. (2005). “Towards a proteome-scale map of the human protein-protein interaction network”. Nature 437 (7062): 1173–8. Bibcode: 2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514.
- Hata K; Kusumi M; Yokomine T et al. (2006). “Meiotic and epigenetic aberrations in Dnmt3L-deficient male germ cells”. Mol. Reprod. Dev. 73 (1): 116–22. doi:10.1002/mrd.20387. PMID 16211598.
- Xie ZH; Huang YN; Chen ZX et al. (2006). “Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L”. Hum. Mol. Genet. 15 (9): 1375–85. doi:10.1093/hmg/ddl059. PMID 16543361.
- “Evolution of the vertebrate DNMT3 gene family: a possible link between existence of DNMT3L and genomic imprinting”. Cytogenet. Genome Res. 113 (1–4): 75–80. (2006). doi:10.1159/000090817. PMID 16575165.
- Hu YH; Warnatz HJ; Vanhecke D et al. (2006). “Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins”. BMC Genomics 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
- Kareta MS; Botello ZM; Ennis JJ et al. (2006). “Reconstitution and mechanism of the stimulation of de novo methylation by human DNMT3L”. J. Biol. Chem. 281 (36): 25893–902. doi:10.1074/jbc.M603140200. PMID 16829525.
- Ooi SK; Qiu C; Bernstein E et al. (2007). “DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA”. Nature 448 (7154): 714–7. Bibcode: 2007Natur.448..714O. doi:10.1038/nature05987. PMC 2650820. PMID 17687327.
- Jia D; Jurkowska RZ; Zhang X et al. (2007). “Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation”. Nature 449 (7159): 248–51. Bibcode: 2007Natur.449..248J. doi:10.1038/nature06146. PMC 2712830. PMID 17713477.
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