DNMT3B

Template:PBB 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.^[1]

Interactions

DNMT3B has been shown to interact with:

References

^ "Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta".
^ ^a ^b ^c Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH (Jul 2003). "Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin". Curr. Biol. 13 (14): 1192–200. doi:10.1016/s0960-9822(03)00432-9. PMID 12867029.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ ^a ^b Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S (Aug 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD. "Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription". Nucleic Acids Res. 32 (2): 598–610. doi:10.1093/nar/gkh195. PMC 373322. PMID 14752048.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ ^a ^b ^c Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, Schmiesing JA, Kim W, Yokomori K, Zhao Y, Robertson KD. "Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery". Nucleic Acids Res. 32 (9): 2716–29. doi:10.1093/nar/gkh589. PMC 419596. PMID 15148359.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ ^a ^b Kang ES, Park CW, Chung JH (Dec 2001). "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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

External links

DNMT3b at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
EC 2.1.1.37

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[entrez-1] "Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta".

[pmid12867029-2] Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH (Jul 2003). "Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin". Curr. Biol. 13 (14): 1192–200. doi:10.1016/s0960-9822(03)00432-9. PMID 12867029.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid12145218-3] Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S (Aug 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid14752048-4] Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD. "Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription". Nucleic Acids Res. 32 (2): 598–610. doi:10.1093/nar/gkh195. PMC 373322. PMID 14752048.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid15148359-5] Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, Schmiesing JA, Kim W, Yokomori K, Zhao Y, Robertson KD. "Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery". Nucleic Acids Res. 32 (9): 2716–29. doi:10.1093/nar/gkh589. PMC 419596. PMID 15148359.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[pmid11735126-6] Kang ES, Park CW, Chung JH (Dec 2001). "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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

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Function

Interactions

References

Further reading

External links