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{{Infobox_gene}}
{{Infobox_gene}}
'''DNA (cytosine-5-)-methyltransferase 3 beta''', also known as '''DNMT3B''', is a protein associated with [[immunodeficiency, centromere instability and facial anomalies syndrome]].
'''DNA (cytosine-5-)-methyltransferase 3 beta''', is an [[enzyme]] that in humans in encoded by the '''DNMT3B''' [[gene]].<ref name="entrez" />  Mutation in this gene are associated with [[immunodeficiency, centromere instability and facial anomalies syndrome]].<ref name="Ehrlich_2003" />


== Function ==
== Function ==


CpG methylation is an [[epigenetics|epigenetic]] modification that is important for [[embryonic development]], [[Genomic imprinting|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 [[ICF syndrome|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.<ref name="entrez">{{cite web | title = Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1789| accessdate = }}</ref>
CpG methylation is an [[epigenetics|epigenetic]] modification that is important for [[embryonic development]], [[Genomic imprinting|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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1789| access-date = }}</ref>
 
== Clinical significance ==
 
[[ICF syndrome|immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome]] is a result of defects in [[lymphocyte]] maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.<ref name="Ehrlich_2003">{{cite journal | vauthors = Ehrlich M | title = The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease | journal = Clinical Immunology | volume = 109 | issue = 1 | pages = 17–28 | date = October 2003 | pmid = 14585272 | doi = 10.1016/S1521-6616(03)00201-8 }}</ref>
 
Variants of the gene can also contribute to nicotine dependency.<ref name="HancockGuo2017">{{cite journal | vauthors = Hancock DB, Guo Y, Reginsson GW, Gaddis NC, Lutz SM, Sherva R, Loukola A, Minica CC, Markunas CA, Han Y, Young KA, Gudbjartsson DF, Gu F, McNeil DW, Qaiser B, Glasheen C, Olson S, Landi MT, Madden PA, Farrer LA, Vink J, Saccone NL, Neale MC, Kranzler HR, McKay J, Hung RJ, Amos CI, Marazita ML, Boomsma DI, Baker TB, Gelernter J, Kaprio J, Caporaso NE, Thorgeirsson TE, Hokanson JE, Bierut LJ, Stefansson K, Johnson EO | display-authors = 6 | title = Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence | journal = Molecular Psychiatry | date = October 2017 | pmid = 28972577 | doi = 10.1038/mp.2017.193 }}</ref>


== Interactions ==
== Interactions ==
Line 10: Line 16:
DNMT3B has been shown to [[Protein-protein interaction|interact]] with:
DNMT3B has been shown to [[Protein-protein interaction|interact]] with:
{{div col|colwidth=20em}}
{{div col|colwidth=20em}}
* [[CBX5 (gene)|CBX5]],<ref name = pmid12867029>{{cite journal | date = Jul 2003 | vauthors = Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH | title = Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin | journal = Curr. Biol. | volume = 13 | issue = 14 | pages = 1192–200 | pmid = 12867029 | doi = 10.1016/s0960-9822(03)00432-9}}</ref>  
* [[CBX5 (gene)|CBX5]],<ref name = pmid12867029>{{cite journal | vauthors = Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH | title = Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin | journal = Current Biology | volume = 13 | issue = 14 | pages = 1192–200 | date = July 2003 | pmid = 12867029 | doi = 10.1016/s0960-9822(03)00432-9 }}</ref>  
* [[DNMT1]],<ref name = pmid12867029/><ref name = pmid12145218>{{cite journal | date = Aug 2002 | vauthors = Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S | title = Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases | journal = EMBO J. | volume = 21 | issue = 15 | pages = 4183–95 | pmid = 12145218 | pmc = 126147 | doi = 10.1093/emboj/cdf401}}</ref>  
* [[DNMT1]],<ref name = pmid12867029/><ref name = pmid12145218>{{cite journal | vauthors = Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S | title = Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases | journal = The EMBO Journal | volume = 21 | issue = 15 | pages = 4183–95 | date = August 2002 | pmid = 12145218 | pmc = 126147 | doi = 10.1093/emboj/cdf401 }}</ref>  
* [[DNMT3A]],<ref name = pmid12867029/><ref name = pmid12145218/><ref name = pmid14752048>{{cite journal | vauthors = Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD | title = Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription | journal = Nucleic Acids Res. | volume = 32 | issue = 2 | pages = 598–610 | pmid = 14752048 | pmc = 373322 | doi = 10.1093/nar/gkh195 }}</ref>  
* [[DNMT3A]],<ref name = pmid12867029/><ref name = pmid12145218/><ref name = pmid14752048>{{cite journal | vauthors = Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD | title = Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription | journal = Nucleic Acids Research | volume = 32 | issue = 2 | pages = 598–610 | pmid = 14752048 | pmc = 373322 | doi = 10.1093/nar/gkh195 }}</ref>  
* [[KIF4A]],<ref name = pmid15148359>{{cite journal | vauthors = Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, Schmiesing JA, Kim W, Yokomori K, Zhao Y, Robertson KD | title = Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery | journal = Nucleic Acids Res. | volume = 32 | issue = 9 | pages = 2716–29 | pmid = 15148359 | pmc = 419596 | doi = 10.1093/nar/gkh589 }}</ref>  
* [[KIF4A]],<ref name = pmid15148359>{{cite journal | vauthors = Geiman TM, Sankpal UT, Robertson AK, Chen Y, Mazumdar M, Heale JT, Schmiesing JA, Kim W, Yokomori K, Zhao Y, Robertson KD | title = Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery | journal = Nucleic Acids Research | volume = 32 | issue = 9 | pages = 2716–29 | pmid = 15148359 | pmc = 419596 | doi = 10.1093/nar/gkh589 }}</ref>  
* [[NCAPG]],<ref name = pmid15148359/>  
* [[NCAPG]],<ref name = pmid15148359/>  
* [[SMC2]],<ref name = pmid15148359/>  
* [[SMC2]],<ref name = pmid15148359/>  
* [[Small ubiquitin-related modifier 1|SUMO1]]<ref name = pmid11735126>{{cite journal | date = Dec 2001 | vauthors = Kang ES, Park CW, Chung JH | title = Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1 | journal = Biochem. Biophys. Res. Commun. | volume = 289 | issue = 4 | pages = 862–8 | pmid = 11735126 | doi = 10.1006/bbrc.2001.6057}}</ref>  and
* [[Small ubiquitin-related modifier 1|SUMO1]]<ref name = pmid11735126>{{cite journal | vauthors = Kang ES, Park CW, Chung JH | title = Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1 | journal = Biochemical and Biophysical Research Communications | volume = 289 | issue = 4 | pages = 862–8 | date = December 2001 | pmid = 11735126 | doi = 10.1006/bbrc.2001.6057 }}</ref>  and
* [[UBE2I]].<ref name = pmid11735126/>
* [[UBE2I]].<ref name = pmid11735126/>
{{Div col end}}
{{Div col end}}
Line 25: Line 31:
== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal | vauthors=Wijmenga C, Hansen RS, Gimelli G |title=Genetic variation in ICF syndrome: evidence for genetic heterogeneity. |journal=Hum. Mutat. |volume=16 |issue= 6 |pages= 509–17 |year= 2001 |pmid= 11102980 |doi= 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V |display-authors=etal}}
* {{cite journal | vauthors = Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL | title = Genetic variation in ICF syndrome: evidence for genetic heterogeneity | journal = Human Mutation | volume = 16 | issue = 6 | pages = 509–17 | date = December 2000 | pmid = 11102980 | doi = 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V }}
*{{cite journal | vauthors=Okano M, Xie S, Li E |title=Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. |journal=Nat. Genet. |volume=19 |issue= 3 |pages= 219–20 |year= 1998 |pmid= 9662389 |doi= 10.1038/890 }}
* {{cite journal | vauthors = Okano M, Xie S, Li E | title = Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases | journal = Nature Genetics | volume = 19 | issue = 3 | pages = 219–20 | date = July 1998 | pmid = 9662389 | doi = 10.1038/890 }}
*{{cite journal | vauthors=Robertson KD, Uzvolgyi E, Liang G |title=The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. |journal=Nucleic Acids Res. |volume=27 |issue= 11 |pages= 2291–8 |year= 1999 |pmid= 10325416 |doi=10.1093/nar/27.11.2291 | pmc=148793  |display-authors=etal}}
* {{cite journal | vauthors = Robertson KD, Uzvolgyi E, Liang G, Talmadge C, Sumegi J, Gonzales FA, Jones PA | title = The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors | journal = Nucleic Acids Research | volume = 27 | issue = 11 | pages = 2291–8 | date = June 1999 | pmid = 10325416 | pmc = 148793 | doi = 10.1093/nar/27.11.2291 }}
*{{cite journal | vauthors=Xie S, Wang Z, Okano M |title=Cloning, expression and chromosome locations of the human DNMT3 gene family. |journal=Gene |volume=236 |issue= 1 |pages= 87–95 |year= 1999 |pmid= 10433969 |doi=10.1016/S0378-1119(99)00252-8 |display-authors=etal}}
* {{cite journal | vauthors = Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K, Li E | title = Cloning, expression and chromosome locations of the human DNMT3 gene family | journal = Gene | volume = 236 | issue = 1 | pages = 87–95 | date = August 1999 | pmid = 10433969 | doi = 10.1016/S0378-1119(99)00252-8 }}
*{{cite journal | vauthors=Okano M, Bell DW, Haber DA, Li E |title=DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. |journal=Cell |volume=99 |issue= 3 |pages= 247–57 |year= 1999 |pmid= 10555141 |doi=10.1016/S0092-8674(00)81656-6 }}
* {{cite journal | vauthors = Okano M, Bell DW, Haber DA, Li E | title = DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development | journal = Cell | volume = 99 | issue = 3 | pages = 247–57 | date = October 1999 | pmid = 10555141 | doi = 10.1016/S0092-8674(00)81656-6 }}
*{{cite journal | vauthors=Hansen RS, Wijmenga C, Luo P |title=The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 25 |pages= 14412–7 |year= 2000 |pmid= 10588719 |doi=10.1073/pnas.96.25.14412 | pmc=24450  |display-authors=etal}}
* {{cite journal | vauthors = Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM | title = The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 25 | pages = 14412–7 | date = December 1999 | pmid = 10588719 | pmc = 24450 | doi = 10.1073/pnas.96.25.14412 }}
*{{cite journal | vauthors=Xu GL, Bestor TH, Bourc'his D |title=Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. |journal=Nature |volume=402 |issue= 6758 |pages= 187–91 |year= 2000 |pmid= 10647011 |doi= 10.1038/46052 |display-authors=etal}}
* {{cite journal | vauthors = Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Péquignot E | title = Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene | journal = Nature | volume = 402 | issue = 6758 | pages = 187–91 | date = November 1999 | pmid = 10647011 | doi = 10.1038/46052 }}
*{{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948  }}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–95 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal | vauthors=Fuks F, Burgers WA, Godin N |title=Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. |journal=EMBO J. |volume=20 |issue= 10 |pages= 2536–44 |year= 2001 |pmid= 11350943 |doi= 10.1093/emboj/20.10.2536 | pmc=125250 |display-authors=etal}}
* {{cite journal | vauthors = Fuks F, Burgers WA, Godin N, Kasai M, Kouzarides T | title = Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription | journal = The EMBO Journal | volume = 20 | issue = 10 | pages = 2536–44 | date = May 2001 | pmid = 11350943 | pmc = 125250 | doi = 10.1093/emboj/20.10.2536 }}
*{{cite journal | vauthors=Kang ES, Park CW, Chung JH |title=Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1. |journal=Biochem. Biophys. Res. Commun. |volume=289 |issue= 4 |pages= 862–8 |year= 2002 |pmid= 11735126 |doi= 10.1006/bbrc.2001.6057 }}
* {{cite journal | vauthors = Kang ES, Park CW, Chung JH | title = Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1 | journal = Biochemical and Biophysical Research Communications | volume = 289 | issue = 4 | pages = 862–8 | date = December 2001 | pmid = 11735126 | doi = 10.1006/bbrc.2001.6057 }}
*{{cite journal | vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |display-authors=etal}}
* {{cite journal | vauthors = Rhee I, Bachman KE, Park BH, Jair KW, Yen RW, Schuebel KE, Cui H, Feinberg AP, Lengauer C, Kinzler KW, Baylin SB, Vogelstein B | title = DNMT1 and DNMT3b cooperate to silence genes in human cancer cells | journal = Nature | volume = 416 | issue = 6880 | pages = 552–6 | date = April 2002 | pmid = 11932749 | doi = 10.1038/416552a }}
*{{cite journal | vauthors=Rhee I, Bachman KE, Park BH |title=DNMT1 and DNMT3b cooperate to silence genes in human cancer cells. |journal=Nature |volume=416 |issue= 6880 |pages= 552–6 |year= 2002 |pmid= 11932749 |doi= 10.1038/416552a |display-authors=etal}}
* {{cite journal | vauthors = Hata K, Okano M, Lei H, Li E | title = Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice | journal = Development | volume = 129 | issue = 8 | pages = 1983–93 | date = April 2002 | pmid = 11934864 | doi = }}
*{{cite journal | vauthors=Hata K, Okano M, Lei H, Li E |title=Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. |journal=Development |volume=129 |issue= 8 |pages= 1983–93 |year= 2002 |pmid= 11934864 |doi= }}
* {{cite journal | vauthors = Beaulieu N, Morin S, Chute IC, Robert MF, Nguyen H, MacLeod AR | title = An essential role for DNA methyltransferase DNMT3B in cancer cell survival | journal = The Journal of Biological Chemistry | volume = 277 | issue = 31 | pages = 28176–81 | date = August 2002 | pmid = 12015329 | doi = 10.1074/jbc.M204734200 }}
*{{cite journal | vauthors=Beaulieu N, Morin S, Chute IC |title=An essential role for DNA methyltransferase DNMT3B in cancer cell survival. |journal=J. Biol. Chem. |volume=277 |issue= 31 |pages= 28176–81 |year= 2002 |pmid= 12015329 |doi= 10.1074/jbc.M204734200 |display-authors=etal}}
* {{cite journal | vauthors = Saito Y, Kanai Y, Sakamoto M, Saito H, Ishii H, Hirohashi S | title = Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 15 | pages = 10060–5 | date = July 2002 | pmid = 12110732 | pmc = 126624 | doi = 10.1073/pnas.152121799 }}
*{{cite journal | vauthors=Saito Y, Kanai Y, Sakamoto M |title=Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 15 |pages= 10060–5 |year= 2002 |pmid= 12110732 |doi= 10.1073/pnas.152121799  | pmc=126624 |display-authors=etal}}
* {{cite journal | vauthors = Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S | title = Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases | journal = The EMBO Journal | volume = 21 | issue = 15 | pages = 4183–95 | date = August 2002 | pmid = 12145218 | pmc = 126147 | doi = 10.1093/emboj/cdf401 }}
*{{cite journal | vauthors=Kim GD, Ni J, Kelesoglu N |title=Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases. |journal=EMBO J. |volume=21 |issue= 15 |pages= 4183–95 |year= 2002 |pmid= 12145218 |doi=10.1093/emboj/cdf401  | pmc=126147  |display-authors=etal}}
* {{cite journal | vauthors = Deplus R, Brenner C, Burgers WA, Putmans P, Kouzarides T, de Launoit Y, Fuks F | title = Dnmt3L is a transcriptional repressor that recruits histone deacetylase | journal = Nucleic Acids Research | volume = 30 | issue = 17 | pages = 3831–8 | date = September 2002 | pmid = 12202768 | pmc = 137431 | doi = 10.1093/nar/gkf509 }}
*{{cite journal | vauthors=Deplus R, Brenner C, Burgers WA |title=Dnmt3L is a transcriptional repressor that recruits histone deacetylase. |journal=Nucleic Acids Res. |volume=30 |issue= 17 |pages= 3831–8 |year= 2002 |pmid= 12202768 |doi=10.1093/nar/gkf509  | pmc=137431  |display-authors=etal}}
* {{cite journal | vauthors = Shen H, Wang L, Spitz MR, Hong WK, Mao L, Wei Q | title = A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer | journal = Cancer Research | volume = 62 | issue = 17 | pages = 4992–5 | date = September 2002 | pmid = 12208751 | doi = }}
*{{cite journal | vauthors=Shen H, Wang L, Spitz MR |title=A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer. |journal=Cancer Res. |volume=62 |issue= 17 |pages= 4992–5 |year= 2002 |pmid= 12208751 |doi=  |display-authors=etal}}
* {{cite journal | vauthors = Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H | title = Three novel DNMT3B mutations in Japanese patients with ICF syndrome | journal = American Journal of Medical Genetics | volume = 112 | issue = 1 | pages = 31–7 | date = September 2002 | pmid = 12239717 | doi = 10.1002/ajmg.10658 }}
*{{cite journal  | vauthors=Shirohzu H, Kubota T, Kumazawa A |title=Three novel DNMT3B mutations in Japanese patients with ICF syndrome. |journal=Am. J. Med. Genet. |volume=112 |issue= 1 |pages= 31–7 |year= 2003 |pmid= 12239717 |doi= 10.1002/ajmg.10658 |display-authors=etal}}
{{refend}}
{{refend}}


Latest revision as of 07:12, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

DNA (cytosine-5-)-methyltransferase 3 beta, is an enzyme that in humans in encoded by the DNMT3B gene.[1] Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome.[2]

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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.[1]

Clinical significance

immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.[2]

Variants of the gene can also contribute to nicotine dependency.[3]

Interactions

DNMT3B has been shown to interact with:

References

  1. ↑ 1.0 1.1 "Entrez Gene: DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta".
  2. ↑ 2.0 2.1 Ehrlich M (October 2003). "The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease". Clinical Immunology. 109 (1): 17–28. doi:10.1016/S1521-6616(03)00201-8. PMID 14585272.
  3. ↑ Hancock DB, Guo Y, Reginsson GW, Gaddis NC, Lutz SM, Sherva R, et al. (October 2017). "Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence". Molecular Psychiatry. doi:10.1038/mp.2017.193. PMID 28972577.
  4. ↑ 4.0 4.1 4.2 Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S, Chen T, Li E, Jenuwein T, Peters AH (July 2003). "Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin". Current Biology. 13 (14): 1192–200. doi:10.1016/s0960-9822(03)00432-9. PMID 12867029.
  5. ↑ 5.0 5.1 Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S (August 2002). "Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases". The EMBO Journal. 21 (15): 4183–95. doi:10.1093/emboj/cdf401. PMC 126147. PMID 12145218.
  6. ↑ 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 Research. 32 (2): 598–610. doi:10.1093/nar/gkh195. PMC 373322. PMID 14752048.
  7. ↑ 7.0 7.1 7.2 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 Research. 32 (9): 2716–29. doi:10.1093/nar/gkh589. PMC 419596. PMID 15148359.
  8. ↑ 8.0 8.1 Kang ES, Park CW, Chung JH (December 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". Biochemical and Biophysical Research Communications. 289 (4): 862–8. doi:10.1006/bbrc.2001.6057. PMID 11735126.

Further reading

External links

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