Methyl-CpG-binding domain protein 1 is a protein that in humans is encoded by the MBD1gene.[5][6][7] The protein encoded by MBD1 binds to methylated sequences in DNA, and thereby influences transcription. It binds to a variety of methylated sequences, and appears to mediate repression of gene expression. It has been shown to play a role in chromatin modification through interaction with the histone H3K9 methyltransferase SETDB1. H3K9me3 is a repressive modification.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000141644 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000024561 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Cross SH, Meehan RR, Nan X, Bird A (Jul 1997). "A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins". Nat Genet. 16 (3): 256–9. doi:10.1038/ng0797-256. PMID 9207790. S2CID 23475072.
^Hendrich B, Abbott C, McQueen H, Chambers D, Cross S, Bird A (Sep 1999). "Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes". Mamm Genome. 10 (9): 906–12. doi:10.1007/s003359901112. PMID 10441743. S2CID 819148.
^ ab"Entrez Gene: MBD1 methyl-CpG binding domain protein 1".
^ abFujita N, Watanabe S, Ichimura T, Tsuruzoe S, Shinkai Y, Tachibana M, Chiba T, Nakao M (Jun 2003). "Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression". J. Biol. Chem. 278 (26): 24132–8. doi:10.1074/jbc.M302283200. PMID 12711603.
^ abReese BE, Bachman KE, Baylin SB, Rountree MR (May 2003). "The Methyl-CpG Binding Protein MBD1 Interacts with the p150 Subunit of Chromatin Assembly Factor 1". Mol. Cell. Biol. 23 (9): 3226–36. doi:10.1128/MCB.23.9.3226-3236.2003. PMC153189. PMID 12697822.
Further readingedit
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hendrich B, Bird A (1998). "Identification and Characterization of a Family of Mammalian Methyl-CpG Binding Proteins". Mol. Cell. Biol. 18 (11): 6538–47. doi:10.1128/MCB.18.11.6538. PMC109239. PMID 9774669.
Ueba T, Kaspar B, Zhao X, Gage FH (1999). "Repression of human fibroblast growth factor 2 by a novel transcription factor". J. Biol. Chem. 274 (15): 10382–7. doi:10.1074/jbc.274.15.10382. PMID 10187827.
Fujita N, Takebayashi S, Okumura K, Kudo S, Chiba T, Saya H, Nakao M (1999). "Methylation-Mediated Transcriptional Silencing in Euchromatin by Methyl-CpG Binding Protein MBD1 Isoforms". Mol. Cell. Biol. 19 (9): 6415–26. doi:10.1128/MCB.19.9.6415. PMC84611. PMID 10454587.
Ohki I, Shimotake N, Fujita N, Nakao M, Shirakawa M (2000). "Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1". EMBO J. 18 (23): 6653–61. doi:10.1093/emboj/18.23.6653. PMC1171728. PMID 10581239.
Ng HH, Jeppesen P, Bird A (2000). "Active Repression of Methylated Genes by the Chromosomal Protein MBD1". Mol. Cell. Biol. 20 (4): 1394–406. doi:10.1128/MCB.20.4.1394-1406.2000. PMC85293. PMID 10648624.
Fujita N, Shimotake N, Ohki I, Chiba T, Saya H, Shirakawa M, Nakao M (2000). "Mechanism of Transcriptional Regulation by Methyl-CpG Binding Protein MBD1". Mol. Cell. Biol. 20 (14): 5107–18. doi:10.1128/MCB.20.14.5107-5118.2000. PMC85960. PMID 10866667.
Saito M, Ishikawa F (2002). "The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2". J. Biol. Chem. 277 (38): 35434–9. doi:10.1074/jbc.M203455200. PMID 12124384.
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A (2002). "Mutation analysis of the coding sequence of the MECP2 gene in infantile autism". Hum. Genet. 111 (4–5): 305–9. doi:10.1007/s00439-002-0786-3. PMID 12384770. S2CID 16236528.
Patra SK, Patra A, Zhao H, Carroll P, Dahiya R (2003). "Methyl-CpG-DNA binding proteins in human prostate cancer: expression of CXXC sequence containing MBD1 and repression of MBD2 and MeCP2". Biochem. Biophys. Res. Commun. 302 (4): 759–66. doi:10.1016/S0006-291X(03)00253-5. PMID 12646234.
Fujita N, Watanabe S, Ichimura T, Ohkuma Y, Chiba T, Saya H, Nakao M (2003). "MCAF Mediates MBD1-Dependent Transcriptional Repression". Mol. Cell. Biol. 23 (8): 2834–43. doi:10.1128/MCB.23.8.2834-2843.2003. PMC152570. PMID 12665582.
Reese BE, Bachman KE, Baylin SB, Rountree MR (2003). "The Methyl-CpG Binding Protein MBD1 Interacts with the p150 Subunit of Chromatin Assembly Factor 1". Mol. Cell. Biol. 23 (9): 3226–36. doi:10.1128/MCB.23.9.3226-3236.2003. PMC153189. PMID 12697822.
Fujita N, Watanabe S, Ichimura T, Tsuruzoe S, Shinkai Y, Tachibana M, Chiba T, Nakao M (2003). "Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression". J. Biol. Chem. 278 (26): 24132–8. doi:10.1074/jbc.M302283200. PMID 12711603.
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA (2003). "Identification of MeCP2 mutations in a series of females with autistic disorder". Pediatr. Neurol. 28 (3): 205–11. doi:10.1016/S0887-8994(02)00624-0. PMID 12770674.
Georgel PT, Horowitz-Scherer RA, Adkins N, Woodcock CL, Wade PA, Hansen JC (2003). "Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation". J. Biol. Chem. 278 (34): 32181–8. doi:10.1074/jbc.M305308200. PMID 12788925.
Watanabe S, Ichimura T, Fujita N, Tsuruzoe S, Ohki I, Shirakawa M, Kawasuji M, Nakao M (2004). "Methylated DNA-binding domain 1 and methylpurine–DNA glycosylase link transcriptional repression and DNA repair in chromatin". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12859–64. doi:10.1073/pnas.2131819100. PMC240709. PMID 14555760.
April 11, 2024
mbd1, methyl, binding, domain, protein, protein, that, humans, encoded, gene, protein, encoded, binds, methylated, sequences, thereby, influences, transcription, binds, variety, methylated, sequences, appears, mediate, repression, gene, expression, been, shown. Methyl CpG binding domain protein 1 is a protein that in humans is encoded by the MBD1 gene 5 6 7 The protein encoded by MBD1 binds to methylated sequences in DNA and thereby influences transcription It binds to a variety of methylated sequences and appears to mediate repression of gene expression It has been shown to play a role in chromatin modification through interaction with the histone H3K9 methyltransferase SETDB1 H3K9me3 is a repressive modification MBD1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1IG4 1D9N 4D4WIdentifiersAliasesMBD1 CXXC3 PCM1 RFT methyl CpG binding domain protein 1External IDsOMIM 156535 MGI 1333811 HomoloGene 8414 GeneCards MBD1Gene location Human Chr Chromosome 18 human 1 Band18q21 1Start50 266 882 bp 1 End50 281 774 bp 1 Gene location Mouse Chr Chromosome 18 mouse 2 Band18 E2 18 50 7 cMStart74 400 676 bp 2 End74 415 803 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inparotid glandpituitary glandanterior pituitarymiddle temporal gyrusright lobe of thyroid glandskin of abdomentibiahair follicleleft lobe of thyroid glandleft uterine tubeTop expressed inlacrimal glandleft lobe of liverleft colonthymusparotid glandright lungright lung lobemedullary collecting ductciliary bodyepididymisMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding double stranded methylated DNA binding zinc ion binding metal ion binding protein binding methyl CpG binding DNA binding transcription factor activity RNA polymerase II specificCellular componentnuclear speck nuclear matrix chromosome nucleus nucleoplasmBiological processregulation of transcription DNA templated transcription by RNA polymerase II transcription DNA templated negative regulation of transcription DNA templated regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II DNA methylation dependent heterochromatin assemblySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez415217190EnsemblENSG00000141644ENSMUSG00000024561UniProtQ9UIS9Q9Z2E2RefSeq mRNA NM 001204136NM 001204137NM 001204138NM 001204139NM 001204140NM 001204141NM 001204142NM 001204143NM 001204151NM 002384NM 015844NM 015845NM 015846NM 015847NM 001323942NM 001323947NM 001323949NM 001323950NM 001323951NM 001323952NM 001323953NM 001323954NM 013594NM 001357421NM 001357422NM 001357423RefSeq protein NP 001191065NP 001191066NP 001191067NP 001191068NP 001191069NP 001191070NP 001191071NP 001191072NP 001191080NP 001310871NP 001310876NP 001310878NP 001310879NP 001310880NP 001310881NP 001310882NP 001310883NP 002375NP 056669NP 056670NP 056671NP 056723NP 038622NP 001344350NP 001344351NP 001344352NP 001389818NP 001389819NP 001389820NP 001389821NP 001389823NP 001389824Location UCSC Chr 18 50 27 50 28 MbChr 18 74 4 74 42 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editDNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development Human proteins MECP2 MBD1 MBD2 MBD3 and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl CpG binding domain MBD Each of these proteins with the exception of MBD3 is capable of binding specifically to methylated DNA MECP2 MBD1 and MBD2 can also repress transcription from methylated gene promoters Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain two to three cysteine rich CXXC domains and some differences in the COOH terminus All five transcript variants repress transcription from methylated promoters in addition variants with three CXXC domains also repress unmethylated promoter activity MBD1 and MBD2 map very close to each other on chromosome 18q21 7 Interactions editMBD1 has been shown to interact with ATF7IP 8 CBX5 9 10 CHAF1A 10 and SUV39H1 9 References edit a b c GRCh38 Ensembl release 89 ENSG00000141644 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000024561 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Cross SH Meehan RR Nan X Bird A Jul 1997 A component of the transcriptional repressor MeCP1 shares a motif with DNA methyltransferase and HRX proteins Nat Genet 16 3 256 9 doi 10 1038 ng0797 256 PMID 9207790 S2CID 23475072 Hendrich B Abbott C McQueen H Chambers D Cross S Bird A Sep 1999 Genomic structure and chromosomal mapping of the murine and human Mbd1 Mbd2 Mbd3 and Mbd4 genes Mamm Genome 10 9 906 12 doi 10 1007 s003359901112 PMID 10441743 S2CID 819148 a b Entrez Gene MBD1 methyl CpG binding domain protein 1 Fujita N Watanabe S Ichimura T Ohkuma Y Chiba T Saya H Nakao M Apr 2003 MCAF Mediates MBD1 Dependent Transcriptional Repression Mol Cell Biol 23 8 2834 43 doi 10 1128 MCB 23 8 2834 2843 2003 PMC 152570 PMID 12665582 a b Fujita N Watanabe S Ichimura T Tsuruzoe S Shinkai Y Tachibana M Chiba T Nakao M Jun 2003 Methyl CpG binding domain 1 MBD1 interacts with the Suv39h1 HP1 heterochromatic complex for DNA methylation based transcriptional repression J Biol Chem 278 26 24132 8 doi 10 1074 jbc M302283200 PMID 12711603 a b Reese BE Bachman KE Baylin SB Rountree MR May 2003 The Methyl CpG Binding Protein MBD1 Interacts with the p150 Subunit of Chromatin Assembly Factor 1 Mol Cell Biol 23 9 3226 36 doi 10 1128 MCB 23 9 3226 3236 2003 PMC 153189 PMID 12697822 Further reading editMaruyama K Sugano S 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 Suzuki Y Yoshitomo Nakagawa K Maruyama K Suyama A Sugano S 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Hendrich B Bird A 1998 Identification and Characterization of a Family of Mammalian Methyl CpG Binding Proteins Mol Cell Biol 18 11 6538 47 doi 10 1128 MCB 18 11 6538 PMC 109239 PMID 9774669 Ueba T Kaspar B Zhao X Gage FH 1999 Repression of human fibroblast growth factor 2 by a novel transcription factor J Biol Chem 274 15 10382 7 doi 10 1074 jbc 274 15 10382 PMID 10187827 Fujita N Takebayashi S Okumura K Kudo S Chiba T Saya H Nakao M 1999 Methylation Mediated Transcriptional Silencing in Euchromatin by Methyl CpG Binding Protein MBD1 Isoforms Mol Cell Biol 19 9 6415 26 doi 10 1128 MCB 19 9 6415 PMC 84611 PMID 10454587 Ohki I Shimotake N Fujita N Nakao M Shirakawa M 2000 Solution structure of the methyl CpG binding domain of the methylation dependent transcriptional repressor MBD1 EMBO J 18 23 6653 61 doi 10 1093 emboj 18 23 6653 PMC 1171728 PMID 10581239 Ng HH Jeppesen P Bird A 2000 Active Repression of Methylated Genes by the Chromosomal Protein MBD1 Mol Cell Biol 20 4 1394 406 doi 10 1128 MCB 20 4 1394 1406 2000 PMC 85293 PMID 10648624 Fujita N Shimotake N Ohki I Chiba T Saya H Shirakawa M Nakao M 2000 Mechanism of Transcriptional Regulation by Methyl CpG Binding Protein MBD1 Mol Cell Biol 20 14 5107 18 doi 10 1128 MCB 20 14 5107 5118 2000 PMC 85960 PMID 10866667 Saito M Ishikawa F 2002 The mCpG binding domain of human MBD3 does not bind to mCpG but interacts with NuRD Mi2 components HDAC1 and MTA2 J Biol Chem 277 38 35434 9 doi 10 1074 jbc M203455200 PMID 12124384 Beyer KS Blasi F Bacchelli E Klauck SM Maestrini E Poustka A 2002 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism Hum Genet 111 4 5 305 9 doi 10 1007 s00439 002 0786 3 PMID 12384770 S2CID 16236528 Patra SK Patra A Zhao H Carroll P Dahiya R 2003 Methyl CpG DNA binding proteins in human prostate cancer expression of CXXC sequence containing MBD1 and repression of MBD2 and MeCP2 Biochem Biophys Res Commun 302 4 759 66 doi 10 1016 S0006 291X 03 00253 5 PMID 12646234 Fujita N Watanabe S Ichimura T Ohkuma Y Chiba T Saya H Nakao M 2003 MCAF Mediates MBD1 Dependent Transcriptional Repression Mol Cell Biol 23 8 2834 43 doi 10 1128 MCB 23 8 2834 2843 2003 PMC 152570 PMID 12665582 Reese BE Bachman KE Baylin SB Rountree MR 2003 The Methyl CpG Binding Protein MBD1 Interacts with the p150 Subunit of Chromatin Assembly Factor 1 Mol Cell Biol 23 9 3226 36 doi 10 1128 MCB 23 9 3226 3236 2003 PMC 153189 PMID 12697822 Fujita N Watanabe S Ichimura T Tsuruzoe S Shinkai Y Tachibana M Chiba T Nakao M 2003 Methyl CpG binding domain 1 MBD1 interacts with the Suv39h1 HP1 heterochromatic complex for DNA methylation based transcriptional repression J Biol Chem 278 26 24132 8 doi 10 1074 jbc M302283200 PMID 12711603 Carney RM Wolpert CM Ravan SA Shahbazian M Ashley Koch A Cuccaro ML Vance JM Pericak Vance MA 2003 Identification of MeCP2 mutations in a series of females with autistic disorder Pediatr Neurol 28 3 205 11 doi 10 1016 S0887 8994 02 00624 0 PMID 12770674 Georgel PT Horowitz Scherer RA Adkins N Woodcock CL Wade PA Hansen JC 2003 Chromatin compaction by human MeCP2 Assembly of novel secondary chromatin structures in the absence of DNA methylation J Biol Chem 278 34 32181 8 doi 10 1074 jbc M305308200 PMID 12788925 Watanabe S Ichimura T Fujita N Tsuruzoe S Ohki I Shirakawa M Kawasuji M Nakao M 2004 Methylated DNA binding domain 1 and methylpurine DNA glycosylase link transcriptional repression and DNA repair in chromatin Proc Natl Acad Sci U S A 100 22 12859 64 doi 10 1073 pnas 2131819100 PMC 240709 PMID 14555760 Retrieved from https en wikipedia org w index php title MBD1 amp oldid 1142789305, wikipedia, wiki, book, books, library,
