DNMT3L: Difference between revisions
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{{ | '''DNA (cytosine-5)-methyltransferase 3-like''' is an [[enzyme]] that in humans is encoded by the ''DNMT3L'' [[gene]].<ref name="pmid10857753">{{cite journal |vauthors=Aapola U, Kawasaki K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P | title = Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family | journal = Genomics | volume = 65 | issue = 3 | pages = 293–8 | date=August 2000| pmid = 10857753 | pmc = | doi = 10.1006/geno.2000.6168 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DNMT3L DNA (cytosine-5-)-methyltransferase 3-like| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29947| accessdate = }}</ref> | ||
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== 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 nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined.<ref name="entrez"/> | |||
==References== | == Interactions == | ||
{{reflist | |||
==Further reading== | DNMT3L has been shown to [[Protein-protein interaction|interact]] with [[HDAC1]].<ref name="pmid12177302">{{cite journal |vauthors=Aapola U, Liiv I, Peterson P | title = Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity | journal = Nucleic Acids Res. | volume = 30 | issue = 16 | pages = 3602–8 | year = 2002 | pmid = 12177302 | pmc = 134241 | doi = 10.1093/nar/gkf474 }}</ref><ref name="pmid12202768">{{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 Res. | volume = 30 | issue = 17 | pages = 3831–8 |date=September 2002 | pmid = 12202768 | pmc = 137431 | doi = 10.1093/nar/gkf509 }}</ref> | ||
== References == | |||
{{reflist}} | |||
== Further reading == | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal | author=Hattori M |title=The DNA sequence of human chromosome 21 |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518 |name-list-format=vanc| author2=Fujiyama A | author3=Taylor TD | display-authors=3 | last4=Taylor | first4=T. D. | last5=Watanabe | first5=H. | last6=Yada | first6=T. | last7=Park | first7=H.-S. | last8=Toyoda | first8=A. | last9=Ishii | first9=K. }} | |||
*{{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 | author=Hattori M | *{{cite journal |vauthors=Burgers WA, Fuks F, Kouzarides T |title=DNA methyltransferases get connected to chromatin |journal=Trends Genet. |volume=18 |issue= 6 |pages= 275–7 |year= 2002 |pmid= 12044346 |doi=10.1016/S0168-9525(02)02667-7 }} | ||
*{{cite journal |vauthors=Aapola U, Liiv I, Peterson P |title=Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity |journal=Nucleic Acids Res. |volume=30 |issue= 16 |pages= 3602–8 |year= 2002 |pmid= 12177302 |doi=10.1093/nar/gkf474 | pmc=134241 }} | |||
*{{cite journal | author=Deplus R |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 |name-list-format=vanc| author2=Brenner C | author3=Burgers WA | display-authors=3 | last4=Putmans | first4=P | last5=Kouzarides | first5=T | last6=De Launoit | first6=Y | last7=Fuks | first7=F }} | |||
*{{cite journal | author=Kierszenbaum AL |title=Genomic imprinting and epigenetic reprogramming: unearthing the garden of forking paths |journal=Mol. Reprod. Dev. |volume=63 |issue= 3 |pages= 269–72 |year= 2003 |pmid= 12237941 |doi= 10.1002/mrd.90011 }} | |||
*{{cite journal | | *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }} | ||
*{{cite journal | | *{{cite journal |vauthors=Chedin F, Lieber MR, Hsieh CL |title=The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16916–21 |year= 2003 |pmid= 12481029 |doi= 10.1073/pnas.262443999 | pmc=139244 }} | ||
*{{cite journal | author= | *{{cite journal | author=Huntriss J |title=Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells |journal=Mol. Reprod. Dev. |volume=67 |issue= 3 |pages= 323–36 |year= 2004 |pmid= 14735494 |doi= 10.1002/mrd.20030 |name-list-format=vanc| author2=Hinkins M | author3=Oliver B | display-authors=3 | last4=Harris | first4=S.E. | last5=Beazley | first5=J.C. | last6=Rutherford | first6=A.J. | last7=Gosden | first7=R.G. | last8=Lanzendorf | first8=S.E. | last9=Picton | first9=H.M. }} | ||
*{{cite journal | author=Suetake I |title=DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction |journal=J. Biol. Chem. |volume=279 |issue= 26 |pages= 27816–23 |year= 2004 |pmid= 15105426 |doi= 10.1074/jbc.M400181200 |name-list-format=vanc| author2=Shinozaki F | author3=Miyagawa J | display-authors=3 | last4=Takeshima | first4=H | last5=Tajima | first5=S }} | |||
*{{cite journal | author= | *{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }} | ||
*{{cite journal | author= | *{{cite journal | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-format=vanc| author2=Venkatesan K | author3=Hao T | display-authors=3 | last4=Hirozane-Kishikawa | first4=Tomoko | last5=Dricot | first5=Amélie | last6=Li | first6=Ning | last7=Berriz | first7=Gabriel F. | last8=Gibbons | first8=Francis D. | last9=Dreze | first9=Matija }} | ||
*{{cite journal | author=Hata K |title=Meiotic and epigenetic aberrations in Dnmt3L-deficient male germ cells |journal=Mol. Reprod. Dev. |volume=73 |issue= 1 |pages= 116–22 |year= 2006 |pmid= 16211598 |doi= 10.1002/mrd.20387 |name-list-format=vanc| author2=Kusumi M | author3=Yokomine T | display-authors=3 | last4=Li | first4=En | last5=Sasaki | first5=Hiroyuki }} | |||
*{{cite journal | author=Xie ZH |title=Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L |journal=Hum. Mol. Genet. |volume=15 |issue= 9 |pages= 1375–85 |year= 2006 |pmid= 16543361 |doi= 10.1093/hmg/ddl059 |name-list-format=vanc| author2=Huang YN | author3=Chen ZX | display-authors=3 | last4=Riggs | first4=AD | last5=Ding | first5=JP | last6=Gowher | first6=H | last7=Jeltsch | first7=A | last8=Sasaki | first8=H | last9=Hata | first9=K }} | |||
*{{cite journal | author= | *{{cite journal |vauthors=Yokomine T, Hata K, Tsudzuki M, Sasaki H |title=Evolution of the vertebrate DNMT3 gene family: a possible link between existence of DNMT3L and genomic imprinting |journal=Cytogenet. Genome Res. |volume=113 |issue= 1–4 |pages= 75–80 |year= 2006 |pmid= 16575165 |doi= 10.1159/000090817 }} | ||
*{{cite journal | author=Hu YH |title=Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins |journal=BMC Genomics |volume=7|pages= 155 |year= 2006 |pmid= 16780588 |doi= 10.1186/1471-2164-7-155 | pmc=1526728 |name-list-format=vanc| author2=Warnatz HJ | author3=Vanhecke D | display-authors=3 | last4=Wagner | first4=Florian | last5=Fiebitz | first5=Andrea | last6=Thamm | first6=Sabine | last7=Kahlem | first7=Pascal | last8=Lehrach | first8=Hans | last9=Yaspo | first9=Marie-Laure }} | |||
*{{cite journal | author=Kareta MS |title=Reconstitution and mechanism of the stimulation of de novo methylation by human DNMT3L |journal=J. Biol. Chem. |volume=281 |issue= 36 |pages= 25893–902 |year= 2006 |pmid= 16829525 |doi= 10.1074/jbc.M603140200 |name-list-format=vanc| author2=Botello ZM | author3=Ennis JJ | display-authors=3 | last4=Chou | first4=C | last5=Chédin | first5=F }} | |||
*{{cite journal | author=Ooi SK |title=DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA |journal=Nature |volume=448 |issue= 7154 |pages= 714–7 |year= 2007 |pmid= 17687327 |doi= 10.1038/nature05987 | pmc=2650820 |name-list-format=vanc| author2=Qiu C | author3=Bernstein E | display-authors=3 | last4=Li | first4=Keqin | last5=Jia | first5=Da | last6=Yang | first6=Zhe | last7=Erdjument-Bromage | first7=Hediye | last8=Tempst | first8=Paul | last9=Lin | first9=Shau-Ping }} | |||
*{{cite journal | author= | *{{cite journal | author=Jia D |title=Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation |journal=Nature |volume=449 |issue= 7159 |pages= 248–51 |year= 2007 |pmid= 17713477 |doi= 10.1038/nature06146 | pmc=2712830 |name-list-format=vanc| author2=Jurkowska RZ | author3=Zhang X | display-authors=3 | last4=Jeltsch | first4=Albert | last5=Cheng | first5=Xiaodong }} | ||
*{{cite journal | author= | |||
}} | |||
{{refend}} | {{refend}} | ||
Latest revision as of 18:39, 30 August 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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DNA (cytosine-5)-methyltransferase 3-like is an enzyme that in humans is encoded by the DNMT3L gene.[1][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 nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined.[2]
Interactions
DNMT3L has been shown to interact with HDAC1.[3][4]
References
- ↑ Aapola U, Kawasaki K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P (August 2000). "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. doi:10.1006/geno.2000.6168. PMID 10857753.
- ↑ 2.0 2.1 "Entrez Gene: DNMT3L DNA (cytosine-5-)-methyltransferase 3-like".
- ↑ Aapola U, Liiv I, Peterson P (2002). "Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity". Nucleic Acids Res. 30 (16): 3602–8. doi:10.1093/nar/gkf474. PMC 134241. PMID 12177302.
- ↑ Deplus R, Brenner C, Burgers WA, Putmans P, Kouzarides T, de Launoit Y, Fuks F (September 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.
Further reading
- Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
- 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.
- Burgers WA, Fuks F, Kouzarides T (2002). "DNA methyltransferases get connected to chromatin". Trends Genet. 18 (6): 275–7. doi:10.1016/S0168-9525(02)02667-7. PMID 12044346.
- Aapola U, Liiv I, Peterson P (2002). "Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity". Nucleic Acids Res. 30 (16): 3602–8. 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.
- Chedin F, Lieber MR, Hsieh CL (2003). "The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16916–21. 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. 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.
- Yokomine T, Hata K, Tsudzuki M, Sasaki H (2006). "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. 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. 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. doi:10.1038/nature06146. PMC 2712830. PMID 17713477.