DNMT1

DNMT1
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	4YOC, 3EPZ, 3PTA, 3SWR, 4WXX
معین‌کننده‌ها
نام‌های دیگر	DNMT1, ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI, DNA (cytosine-5-)-methyltransferase 1, DNA methyltransferase 1
شناسه‌های بیرونی	OMIM: 126375 MGI: 94912 HomoloGene: 124071 GeneCards: DNMT1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۹ (موش)
پایان	20,871,184 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• GO:0102674، GO:0102675 methyltransferase activity; • DNA binding; • transferase activity; • promoter-specific chromatin binding; • methyl-CpG binding; • zinc ion binding; • DNA-methyltransferase activity; • chromatin binding; • metal ion binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • RNA binding; • DNA (cytosine-5-)-methyltransferase activity; • GO:0001200، GO:0001133، GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
ترکیبات سلولی	• pericentric heterochromatin; • replication fork; • نوکلئوپلاسم; • GO:0035328 هتروکروماتین; • هسته یاخته;
فرایند زیستی	• C-5 methylation of cytosine; • GO:0009373 regulation of transcription, DNA-templated; • maintenance of DNA methylation; • positive regulation of DNA methylation-dependent heterochromatin assembly; • GO:1901227 negative regulation of transcription by RNA polymerase II; • transcription, DNA-templated; • متیل‌دار کردن; • دی‌ان‌ای متیلاسیون; • GO:1901313 positive regulation of gene expression; • negative regulation of gene expression, epigenetic; • positive regulation of histone H3-K4 methylation; • regulation of cell population proliferation; • negative regulation of histone H3-K9 methylation; • cellular response to amino acid stimulus; • ساماندهی بیان ژن; • Ras protein signal transduction; • GO:0045996 negative regulation of transcription, DNA-templated; • DNA methylation on cytosine; • DNA methylation involved in embryo development; • GO:0031497، GO:0006336، GO:0034724، GO:0001301، GO:0007580، GO:0034652، GO:0010847 chromatin organization; • DNA methylation on cytosine within a CG sequence; • negative regulation of gene expression; • positive regulation of vascular associated smooth muscle cell proliferation; • negative regulation of vascular associated smooth muscle cell apoptotic process; • negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	1786
	13433
	ENSG00000130816
	ENSMUSG00000004099
	P26358
	P13864
	NM_001379، NM_001318730، NM_001318731 NM_001130823، NM_001379، NM_001318730، NM_001318731
	NM_001199432، NM_001199433، NM_010066، XM_006509988، XM_011242393، NM_001314011 NM_001199431، NM_001199432، NM_001199433، NM_010066، XM_006509988، XM_011242393، NM_001314011
	NP_001305659، NP_001305660، NP_001370 NP_001124295، NP_001305659، NP_001305660، NP_001370
	NP_001186361، NP_001186362، NP_001300940، NP_034196، XP_006510051، XP_011240695، NP_001391614 NP_001186360، NP_001186361، NP_001186362، NP_001300940، NP_034196، XP_006510051، XP_011240695، NP_001391614
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

دی‌ان‌ای (سیتوزین-۵) متیل‌ترانسفراز ۱ (انگلیسی: DNMT1) یک آنزیم است که در انسان توسط ژن «DNMT1» کُدگذاری می‌شود.^[۴]

این آنزیم انتقال ریشهٔ متیل را به ساختارهای خاص CpG در مولکول دی‌ان‌ای تسهیل می‌کند.

اهمیت بالینی

این آنزیم نقش حیاتی در حفظ و نگهداری سلول‌های بنیادی خون‌ساز ایفا می‌کند. اگر میزان این آنزیم در سلول‌های بنیادی خون‌ساز کم باشد، پس از انجام پیوند مغز استخوان، سلول‌های خون‌ساز قادر به دوباره‌سازی خود نیستند.^[۵]

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000004099 - 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.
↑ Yen RW, Vertino PM, Nelkin BD, Yu JJ, el-Deiry W, Cumaraswamy A, Lennon GG, Trask BJ, Celano P, Baylin SB (May 1992). "Isolation and characterization of the cDNA encoding human DNA methyltransferase". Nucleic Acids Research. 20 (9): 2287–91. doi:10.1093/nar/20.9.2287. PMC 312343. PMID 1594447.
↑ Trowbridge JJ, Snow JW, Kim J, Orkin SH (October 2009). "DNA methyltransferase 1 is essential for and uniquely regulates hematopoietic stem and progenitor cells". Cell Stem Cell. 5 (4): 442–9. doi:10.1016/j.stem.2009.08.016. PMC 2767228. PMID 19796624.

مشارکت‌کنندگان ویکی‌پدیا. «DNMT1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۷ اوت ۲۰۱۹.

برای مطالعهٔ بیشتر

Smith SS, Kaplan BE, Sowers LC, Newman EM (May 1992). "Mechanism of human methyl-directed DNA methyltransferase and the fidelity of cytosine methylation". Proceedings of the National Academy of Sciences of the United States of America. 89 (10): 4744–8. doi:10.1073/pnas.89.10.4744. PMC 49160. PMID 1584813.
Bestor T, Laudano A, Mattaliano R, Ingram V (October 1988). "Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases". Journal of Molecular Biology. 203 (4): 971–83. doi:10.1016/0022-2836(88)90122-2. PMID 3210246.
Smith SS (1994). "Biological implications of the mechanism of action of human DNA (cytosine-5)methyltransferase". Progress in Nucleic Acid Research and Molecular Biology. 49: 65–111. doi:10.1016/S0079-6603(08)60048-3. ISBN 978-0-12-540049-7. PMID 7863011.
Hijmans EM, Voorhoeve PM, Beijersbergen RL, van 't Veer LJ, Bernards R (June 1995). "E2F-5, a new E2F family member that interacts with p130 in vivo". Molecular and Cellular Biology. 15 (6): 3082–9. doi:10.1128/mcb.15.6.3082. PMC 230539. PMID 7760804.
Yoder JA, Yen RW, Vertino PM, Bestor TH, Baylin SB (December 1996). "New 5' regions of the murine and human genes for DNA (cytosine-5)-methyltransferase". The Journal of Biological Chemistry. 271 (49): 31092–7. doi:10.1074/jbc.271.49.31092. PMID 8940105.
Chuang LS, Ian HI, Koh TW, Ng HH, Xu G, Li BF (September 1997). "Human DNA-(cytosine-5) methyltransferase-PCNA complex as a target for p21WAF1". Science. 277 (5334): 1996–2000. doi:10.1126/science.277.5334.1996. PMID 9302295.
Kho MR, Baker DJ, Laayoun A, Smith SS (January 1998). "Stalling of human DNA (cytosine-5) methyltransferase at single-strand conformers from a site of dynamic mutation". Journal of Molecular Biology. 275 (1): 67–79. doi:10.1006/jmbi.1997.1430. PMID 9451440.
Baylin SB (September 1997). "Tying it all together: epigenetics, genetics, cell cycle, and cancer". Science. 277 (5334): 1948–9. doi:10.1126/science.277.5334.1948. PMID 9333948.
Robertson KD, Uzvolgyi E, Liang G, Talmadge C, Sumegi J, Gonzales FA, Jones PA (June 1999). "The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors". Nucleic Acids Research. 27 (11): 2291–8. doi:10.1093/nar/27.11.2291. PMC 148793. PMID 10325416.
Michaelson JS, Bader D, Kuo F, Kozak C, Leder P (August 1999). "Loss of Daxx, a promiscuously interacting protein, results in extensive apoptosis in early mouse development". Genes & Development. 13 (15): 1918–23. doi:10.1101/gad.13.15.1918. PMC 316925. PMID 10444590.
Hsu DW, Lin MJ, Lee TL, Wen SC, Chen X, Shen CK (August 1999). "Two major forms of DNA (cytosine-5) methyltransferase in human somatic tissues". Proceedings of the National Academy of Sciences of the United States of America. 96 (17): 9751–6. doi:10.1073/pnas.96.17.9751. PMC 22282. PMID 10449766.
Fuks F, Burgers WA, Brehm A, Hughes-Davies L, Kouzarides T (January 2000). "DNA methyltransferase Dnmt1 associates with histone deacetylase activity". Nature Genetics. 24 (1): 88–91. doi:10.1038/71750. PMID 10615135.
Bonfils C, Beaulieu N, Chan E, Cotton-Montpetit J, MacLeod AR (April 2000). "Characterization of the human DNA methyltransferase splice variant Dnmt1b". The Journal of Biological Chemistry. 275 (15): 10754–60. doi:10.1074/jbc.275.15.10754. PMID 10753866.
Rountree MR, Bachman KE, Baylin SB (July 2000). "DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci". Nature Genetics. 25 (3): 269–77. doi:10.1038/77023. PMID 10888872.
Robertson KD, Ait-Si-Ali S, Yokochi T, Wade PA, Jones PL, Wolffe AP (July 2000). "DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters". Nature Genetics. 25 (3): 338–42. doi:10.1038/77124. PMID 10888886.
Tatematsu KI, Yamazaki T, Ishikawa F (August 2000). "MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase". Genes to Cells. 5 (8): 677–88. doi:10.1046/j.1365-2443.2000.00359.x. PMID 10947852.
Mizuno S, Chijiwa T, Okamura T, Akashi K, Fukumaki Y, Niho Y, Sasaki H (March 2001). "Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia". Blood. 97 (5): 1172–9. doi:10.1182/blood.V97.5.1172. PMID 11222358.
Fatemi M, Hermann A, Pradhan S, Jeltsch A (June 2001). "The activity of the murine DNA methyltransferase Dnmt1 is controlled by interaction of the catalytic domain with the N-terminal part of the enzyme leading to an allosteric activation of the enzyme after binding to methylated DNA". Journal of Molecular Biology. 309 (5): 1189–99. doi:10.1006/jmbi.2001.4709. PMID 11399088.
Dintilhac A, Bernués J (March 2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". The Journal of Biological Chemistry. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
Di Croce L, Raker VA, Corsaro M, Fazi F, Fanelli M, Faretta M, Fuks F, Lo Coco F, Kouzarides T, Nervi C, Minucci S, Pelicci PG (February 2002). "Methyltransferase recruitment and DNA hypermethylation of target promoters by an oncogenic transcription factor". Science. 295 (5557): 1079–82. doi:10.1126/science.1065173. PMID 11834837.
Pradhan S, Kim GD (February 2002). "The retinoblastoma gene product interacts with maintenance human DNA (cytosine-5) methyltransferase and modulates its activity". The EMBO Journal. 21 (4): 779–88. doi:10.1093/emboj/21.4.779. PMC 125847. PMID 11847125.
Rhee I, Bachman KE, Park BH, Jair KW, Yen RW, Schuebel KE, Cui H, Feinberg AP, Lengauer C, Kinzler KW, Baylin SB, Vogelstein B (April 2002). "DNMT1 and DNMT3b cooperate to silence genes in human cancer cells". Nature. 416 (6880): 552–6. doi:10.1038/416552a. PMID 11932749.
Jair KW, Bachman KE, Suzuki H, Ting AH, Rhee I, Yen RW, Baylin SB, Schuebel KE (January 2006). "De novo CpG island methylation in human cancer cells". Cancer Research. 66 (2): 682–92. doi:10.1158/0008-5472.CAN-05-1980. PMID 16423997.
Ting AH, Jair KW, Schuebel KE, Baylin SB (January 2006). "Differential requirement for DNA methyltransferase 1 in maintaining human cancer cell gene promoter hypermethylation". Cancer Research. 66 (2): 729–35. doi:10.1158/0008-5472.CAN-05-1537. PMID 16424002.
Svedruzić ZM (2008). "Mammalian cytosine DNA methyltransferase Dnmt1: enzymatic mechanism, novel mechanism-based inhibitors, and RNA-directed DNA methylation" (PDF). Current Medicinal Chemistry. 15 (1): 92–106. doi:10.2174/092986708783330700. PMID 18220765.
Bestor T, Laudano A, Mattaliano R, Ingram V (October 1988). "Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases". Journal of Molecular Biology. 203 (4): 971–83. doi:10.1016/0022-2836(88)90122-2. PMID 3210246.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000004099 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid_1594447-4] Yen RW, Vertino PM, Nelkin BD, Yu JJ, el-Deiry W, Cumaraswamy A, Lennon GG, Trask BJ, Celano P, Baylin SB (May 1992). "Isolation and characterization of the cDNA encoding human DNA methyltransferase". Nucleic Acids Research. 20 (9): 2287–91. doi:10.1093/nar/20.9.2287. PMC 312343. PMID 1594447.

[5] Trowbridge JJ, Snow JW, Kim J, Orkin SH (October 2009). "DNA methyltransferase 1 is essential for and uniquely regulates hematopoietic stem and progenitor cells". Cell Stem Cell. 5 (4): 442–9. doi:10.1016/j.stem.2009.08.016. PMC 2767228. PMID 19796624.

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