DNMT3B

From Wikipedia, the free encyclopedia


DNA (cytosine-5-)-methyltransferase 3 beta
PDB rendering based on 1khc.
Available structures: 1khc
Identifiers
Symbol(s) DNMT3B; ICF; M.HsaIIIB
External IDs OMIM: 602900 MGI: 1261819 HomoloGene: 56000
EC number 2.1.1.37
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1789 13436
Ensembl ENSG00000088305 ENSMUSG00000027478
Uniprot Q9UBC3 O88509
Refseq NM_006892 (mRNA)
NP_008823 (protein)		 XM_001003158 (mRNA)
XP_001003158 (protein)
Location Chr 20: 30.81 - 30.86 Mb Chr 2: 153.34 - 153.38 Mb
Pubmed search [1] [2]

DNA (cytosine-5-)-methyltransferase 3 beta, also known as DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome.

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.[1]

[edit] References

  1. ^ Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta.

[edit] Further reading

  • Wijmenga C, Hansen RS, Gimelli G, et al. (2001). "Genetic variation in ICF syndrome: evidence for genetic heterogeneity.". Hum. Mutat. 16 (6): 509–17. doi:10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID 11102980. 
  • Okano M, Xie S, Li E (1998). "Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases.". Nat. Genet. 19 (3): 219–20. doi:10.1038/890. PMID 9662389. 
  • Robertson KD, Uzvolgyi E, Liang G, et al. (1999). "The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.". Nucleic Acids Res. 27 (11): 2291–8. PMID 10325416. 
  • Xie S, Wang Z, Okano M, et al. (1999). "Cloning, expression and chromosome locations of the human DNMT3 gene family.". Gene 236 (1): 87–95. PMID 10433969. 
  • Okano M, Bell DW, Haber DA, Li E (1999). "DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.". Cell 99 (3): 247–57. PMID 10555141. 
  • Hansen RS, Wijmenga C, Luo P, et al. (2000). "The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.". Proc. Natl. Acad. Sci. U.S.A. 96 (25): 14412–7. PMID 10588719. 
  • Xu GL, Bestor TH, Bourc'his D, et al. (2000). "Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.". Nature 402 (6758): 187–91. doi:10.1038/46052. PMID 10647011. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
  • Fuks F, Burgers WA, Godin N, et al. (2001). "Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.". EMBO J. 20 (10): 2536–44. doi:10.1093/emboj/20.10.2536. PMID 11350943. 
  • Kang ES, Park CW, Chung JH (2002). "Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1.". Biochem. Biophys. Res. Commun. 289 (4): 862–8. doi:10.1006/bbrc.2001.6057. PMID 11735126. 
  • Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052. 
  • Rhee I, Bachman KE, Park BH, et al. (2002). "DNMT1 and DNMT3b cooperate to silence genes in human cancer cells.". Nature 416 (6880): 552–6. doi:10.1038/416552a. PMID 11932749. 
  • Hata K, Okano M, Lei H, Li E (2002). "Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice.". Development 129 (8): 1983–93. PMID 11934864. 
  • Beaulieu N, Morin S, Chute IC, et al. (2002). "An essential role for DNA methyltransferase DNMT3B in cancer cell survival.". J. Biol. Chem. 277 (31): 28176–81. doi:10.1074/jbc.M204734200. PMID 12015329. 
  • Saito Y, Kanai Y, Sakamoto M, et al. (2002). "Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis.". Proc. Natl. Acad. Sci. U.S.A. 99 (15): 10060–5. doi:10.1073/pnas.152121799. PMID 12110732. 
  • Kim GD, Ni J, Kelesoglu N, et al. (2002). "Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.". EMBO J. 21 (15): 4183–95. PMID 12145218. 
  • 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. PMID 12202768. 
  • Shen H, Wang L, Spitz MR, et al. (2002). "A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer.". Cancer Res. 62 (17): 4992–5. PMID 12208751. 
  • Shirohzu H, Kubota T, Kumazawa A, et al. (2003). "Three novel DNMT3B mutations in Japanese patients with ICF syndrome.". Am. J. Med. Genet. 112 (1): 31–7. doi:10.1002/ajmg.10658. PMID 12239717. 

[edit] External links

 This biochemistry article is a stub. You can help Wikipedia by expanding it.
v • d • e
Transferase: one carbon transferases (EC 2.1)
2.1.1 - Methyltransferases
2.1.2 - Hydroxy methyl-,
Formyl- and Related Transferases
2.1.3 - Carboxy- and Carbamoyl transferases
2.1.4 - Amidino transferases