DNMT3B

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

Function

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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.

Interactions

DNMT3B has been shown to interact with:

• CBX5,
• DNMT1,
• DNMT3A,
• KIF4A,
• NCAPG,
• SMC2,
• SUMO1 and
• UBE2I.

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. doi:10.1093/nar/27.11.2291. PMC 148793. 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. doi:10.1016/S0378-1119(99)00252-8. 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. doi:10.1016/S0092-8674(00)81656-6. 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. doi:10.1073/pnas.96.25.14412. PMC 24450. 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. doi:10.1101/gr.143000. PMC 310948. 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. PMC 125250. 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. PMC 126624. 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. doi:10.1093/emboj/cdf401. PMC 126147. 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. doi:10.1093/nar/gkf509. PMC 137431. 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.

External links

• DNMT3b at the US National Library of Medicine Medical Subject Headings (MeSH)
• EC 2.1.1.37