Genetic alterations of DNA methylation machinery in human diseases
DNA methylation plays a critical role in the regulation of chromatin structure and gene expression and is involved in a variety of biological processes. The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and 'demethylating' pr...
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| Veröffentlicht in: | Epigenomics 2015-04, Vol.7 (2), p.247-265 |
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| creator | Hamidi, Tewfik Singh, Anup Kumar Chen, Taiping |
| description | DNA methylation plays a critical role in the regulation of chromatin structure and gene expression and is involved in a variety of biological processes. The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and 'demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3). The effects of DNA methylation on chromatin and gene expression are largely mediated by methylated DNA 'reader' proteins, including MeCP2. Numerous mutations in
,
and
have been identified in cancer and developmental disorders, highlighting the importance of the DNA methylation machinery in human development and physiology. In this review, we describe these mutations and discuss how they may lead to disease phenotypes. |
| doi_str_mv | 10.2217/epi.14.80 |
| format | Article |
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,
and
have been identified in cancer and developmental disorders, highlighting the importance of the DNA methylation machinery in human development and physiology. In this review, we describe these mutations and discuss how they may lead to disease phenotypes.</description><identifier>ISSN: 1750-1911</identifier><identifier>EISSN: 1750-192X</identifier><identifier>DOI: 10.2217/epi.14.80</identifier><identifier>PMID: 25942534</identifier><language>eng</language><publisher>England: Future Medicine Ltd</publisher><subject>Amino acids ; AML ; Analysis ; Biological activity ; Biotechnology ; Care and treatment ; Chromatin ; Deoxyribonucleic acid ; Developmental disabilities ; Diagnosis ; Disease - genetics ; DNA ; DNA (Cytosine-5-)-Methyltransferase 1 ; DNA (Cytosine-5-)-Methyltransferases - genetics ; DNA Methylation ; DNA-Binding Proteins - genetics ; DNMT ; DNMT1 protein ; Embryonic development ; Gene expression ; Genomes ; Humans ; ICF syndrome ; Leukemia ; Localization ; Mammals ; MBD ; MeCP2 ; MeCP2 protein ; Methyl-CpG binding protein ; Methyl-CpG-Binding Protein 2 - genetics ; Methylation ; Mixed Function Oxygenases ; Mutation ; Neoplasms - genetics ; Neurons ; Phenotypes ; Phosphorylation ; Proteins ; Proto-Oncogene Proteins - genetics ; Rett syndrome ; Rett Syndrome - genetics ; TET</subject><ispartof>Epigenomics, 2015-04, Vol.7 (2), p.247-265</ispartof><rights>COPYRIGHT 2015 Future Medicine Ltd.</rights><rights>Copyright Future Medicine Ltd Apr 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c492t-189a058e30c9018635230300bed9151b15e4d14614b36d2596146706e70582ad3</citedby><cites>FETCH-LOGICAL-c492t-189a058e30c9018635230300bed9151b15e4d14614b36d2596146706e70582ad3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2291462012/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2291462012?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,21389,27924,27925,33530,33531,43659,64385,64387,64389,72469,74104</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25942534$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hamidi, Tewfik</creatorcontrib><creatorcontrib>Singh, Anup Kumar</creatorcontrib><creatorcontrib>Chen, Taiping</creatorcontrib><title>Genetic alterations of DNA methylation machinery in human diseases</title><title>Epigenomics</title><addtitle>Epigenomics</addtitle><description>DNA methylation plays a critical role in the regulation of chromatin structure and gene expression and is involved in a variety of biological processes. The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and 'demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3). The effects of DNA methylation on chromatin and gene expression are largely mediated by methylated DNA 'reader' proteins, including MeCP2. Numerous mutations in
,
and
have been identified in cancer and developmental disorders, highlighting the importance of the DNA methylation machinery in human development and physiology. In this review, we describe these mutations and discuss how they may lead to disease phenotypes.</description><subject>Amino acids</subject><subject>AML</subject><subject>Analysis</subject><subject>Biological activity</subject><subject>Biotechnology</subject><subject>Care and treatment</subject><subject>Chromatin</subject><subject>Deoxyribonucleic acid</subject><subject>Developmental disabilities</subject><subject>Diagnosis</subject><subject>Disease - genetics</subject><subject>DNA</subject><subject>DNA (Cytosine-5-)-Methyltransferase 1</subject><subject>DNA (Cytosine-5-)-Methyltransferases - genetics</subject><subject>DNA Methylation</subject><subject>DNA-Binding Proteins - genetics</subject><subject>DNMT</subject><subject>DNMT1 protein</subject><subject>Embryonic development</subject><subject>Gene expression</subject><subject>Genomes</subject><subject>Humans</subject><subject>ICF syndrome</subject><subject>Leukemia</subject><subject>Localization</subject><subject>Mammals</subject><subject>MBD</subject><subject>MeCP2</subject><subject>MeCP2 protein</subject><subject>Methyl-CpG binding protein</subject><subject>Methyl-CpG-Binding Protein 2 - genetics</subject><subject>Methylation</subject><subject>Mixed Function Oxygenases</subject><subject>Mutation</subject><subject>Neoplasms - genetics</subject><subject>Neurons</subject><subject>Phenotypes</subject><subject>Phosphorylation</subject><subject>Proteins</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Rett syndrome</subject><subject>Rett Syndrome - genetics</subject><subject>TET</subject><issn>1750-1911</issn><issn>1750-192X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNptkU9P3DAQxa2KChDdA1-gitQLPezW4z-Jc1wo0EqoXEDiZnmdSdcocbZ2cthv34FdqIqwDx6Pfu9pNI-xU-ALIaD6hpuwALUw_AM7hkrzOdTi4eC1Bjhis5wfOR0pTF3CITsSulZCS3XMzq8x4hh84boRkxvDEHMxtMX3X8uix3G97Z57Re_8OkRM2yLEYj31LhZNyOgy5k_sY-u6jLP9e8Lury7vLn7Mb26vf14sb-Ze1WKcg6kd1wYl9zUHU0otJJecr7CpQcMKNKoGVAlqJcuGJqSqrHiJFamEa-QJO9v5btLwZ8I82j5kj13nIg5TtlAa8jXaVIR-eYM-DlOKNJ0VoiZfwUH8o367Dm2I7TAm559M7VKBELRAWRK1eIei22Af_BCxDdT_T_B1J_BpyDlhazcp9C5tLXD7FJmlyCwoazixn_eDTqsem1fyJSAC9A5op3FKmH3A6NHufqQInlJ5x_gvwPyesg</recordid><startdate>20150401</startdate><enddate>20150401</enddate><creator>Hamidi, Tewfik</creator><creator>Singh, Anup Kumar</creator><creator>Chen, Taiping</creator><general>Future Medicine Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>EHMNL</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P5Z</scope><scope>P62</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20150401</creationdate><title>Genetic alterations of DNA methylation machinery in human diseases</title><author>Hamidi, Tewfik ; Singh, Anup Kumar ; Chen, Taiping</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c492t-189a058e30c9018635230300bed9151b15e4d14614b36d2596146706e70582ad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Amino acids</topic><topic>AML</topic><topic>Analysis</topic><topic>Biological activity</topic><topic>Biotechnology</topic><topic>Care and treatment</topic><topic>Chromatin</topic><topic>Deoxyribonucleic acid</topic><topic>Developmental disabilities</topic><topic>Diagnosis</topic><topic>Disease - genetics</topic><topic>DNA</topic><topic>DNA (Cytosine-5-)-Methyltransferase 1</topic><topic>DNA (Cytosine-5-)-Methyltransferases - genetics</topic><topic>DNA Methylation</topic><topic>DNA-Binding Proteins - genetics</topic><topic>DNMT</topic><topic>DNMT1 protein</topic><topic>Embryonic development</topic><topic>Gene expression</topic><topic>Genomes</topic><topic>Humans</topic><topic>ICF syndrome</topic><topic>Leukemia</topic><topic>Localization</topic><topic>Mammals</topic><topic>MBD</topic><topic>MeCP2</topic><topic>MeCP2 protein</topic><topic>Methyl-CpG binding protein</topic><topic>Methyl-CpG-Binding Protein 2 - genetics</topic><topic>Methylation</topic><topic>Mixed Function Oxygenases</topic><topic>Mutation</topic><topic>Neoplasms - genetics</topic><topic>Neurons</topic><topic>Phenotypes</topic><topic>Phosphorylation</topic><topic>Proteins</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Rett syndrome</topic><topic>Rett Syndrome - genetics</topic><topic>TET</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hamidi, Tewfik</creatorcontrib><creatorcontrib>Singh, Anup Kumar</creatorcontrib><creatorcontrib>Chen, Taiping</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>UK & Ireland Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Epigenomics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hamidi, Tewfik</au><au>Singh, Anup Kumar</au><au>Chen, Taiping</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic alterations of DNA methylation machinery in human diseases</atitle><jtitle>Epigenomics</jtitle><addtitle>Epigenomics</addtitle><date>2015-04-01</date><risdate>2015</risdate><volume>7</volume><issue>2</issue><spage>247</spage><epage>265</epage><pages>247-265</pages><issn>1750-1911</issn><eissn>1750-192X</eissn><abstract>DNA methylation plays a critical role in the regulation of chromatin structure and gene expression and is involved in a variety of biological processes. The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and 'demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3). The effects of DNA methylation on chromatin and gene expression are largely mediated by methylated DNA 'reader' proteins, including MeCP2. Numerous mutations in
,
and
have been identified in cancer and developmental disorders, highlighting the importance of the DNA methylation machinery in human development and physiology. In this review, we describe these mutations and discuss how they may lead to disease phenotypes.</abstract><cop>England</cop><pub>Future Medicine Ltd</pub><pmid>25942534</pmid><doi>10.2217/epi.14.80</doi><tpages>19</tpages></addata></record> |
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| subjects | Amino acids AML Analysis Biological activity Biotechnology Care and treatment Chromatin Deoxyribonucleic acid Developmental disabilities Diagnosis Disease - genetics DNA DNA (Cytosine-5-)-Methyltransferase 1 DNA (Cytosine-5-)-Methyltransferases - genetics DNA Methylation DNA-Binding Proteins - genetics DNMT DNMT1 protein Embryonic development Gene expression Genomes Humans ICF syndrome Leukemia Localization Mammals MBD MeCP2 MeCP2 protein Methyl-CpG binding protein Methyl-CpG-Binding Protein 2 - genetics Methylation Mixed Function Oxygenases Mutation Neoplasms - genetics Neurons Phenotypes Phosphorylation Proteins Proto-Oncogene Proteins - genetics Rett syndrome Rett Syndrome - genetics TET |
| title | Genetic alterations of DNA methylation machinery in human diseases |
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