DNA Methylation in the Diagnosis of Monogenic Diseases
DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as conse...
Gespeichert in:
| Veröffentlicht in: | Genes 2020-03, Vol.11 (4), p.355 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 4 |
| container_start_page | 355 |
| container_title | Genes |
| container_volume | 11 |
| creator | Cerrato, Flavia Sparago, Angela Ariani, Francesca Brugnoletti, Fulvia Calzari, Luciano Coppedè, Fabio De Luca, Alessandro Gervasini, Cristina Giardina, Emiliano Gurrieri, Fiorella Lo Nigro, Cristiana Merla, Giuseppe Miozzo, Monica Russo, Silvia Sangiorgi, Eugenio Sirchia, Silvia M Squeo, Gabriella Maria Tabano, Silvia Tabolacci, Elisabetta Torrente, Isabella Genuardi, Maurizio Neri, Giovanni Riccio, Andrea |
| description | DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results. |
| doi_str_mv | 10.3390/genes11040355 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7231024</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2384822419</sourcerecordid><originalsourceid>FETCH-LOGICAL-c387t-480c6ae504b3718fe2b26203bee43df291a469ba6ac61e1ee93a713034d0b7913</originalsourceid><addsrcrecordid>eNpVkM1PAjEQxRujEYIcvZo9elmddrpfFxMCfiWgFz033WUWapYWt4sJ_701IIG5zGTml_cmj7FrDneIBdwvyJLnHCRgkpyxvoAMYylFcn4099jQ-y8IJUEAJJesh0IIWXDRZ-nkbRTNqFtuG90ZZyNjo25J0cTohXXe-MjV0cxZF6xMFdaetCd_xS5q3Xga7vuAfT49foxf4un78-t4NI0rzLMuljlUqaYEZIkZz2sSpUgFYEkkcV6LgmuZFqVOdZVy4kQF6owjoJxDmRUcB-xhp7velCuaV2S7Vjdq3ZqVbrfKaaNOL9Ys1cL9qEwgByGDwO1eoHXfG_KdWhlfUdNoS27jlcBc5iEMXgQ03qFV67xvqT7YcFB_cauTuAN_c_zbgf4PF38Bk356vQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2384822419</pqid></control><display><type>article</type><title>DNA Methylation in the Diagnosis of Monogenic Diseases</title><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>PubMed Central Open Access</source><creator>Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca ; Brugnoletti, Fulvia ; Calzari, Luciano ; Coppedè, Fabio ; De Luca, Alessandro ; Gervasini, Cristina ; Giardina, Emiliano ; Gurrieri, Fiorella ; Lo Nigro, Cristiana ; Merla, Giuseppe ; Miozzo, Monica ; Russo, Silvia ; Sangiorgi, Eugenio ; Sirchia, Silvia M ; Squeo, Gabriella Maria ; Tabano, Silvia ; Tabolacci, Elisabetta ; Torrente, Isabella ; Genuardi, Maurizio ; Neri, Giovanni ; Riccio, Andrea</creator><creatorcontrib>Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca ; Brugnoletti, Fulvia ; Calzari, Luciano ; Coppedè, Fabio ; De Luca, Alessandro ; Gervasini, Cristina ; Giardina, Emiliano ; Gurrieri, Fiorella ; Lo Nigro, Cristiana ; Merla, Giuseppe ; Miozzo, Monica ; Russo, Silvia ; Sangiorgi, Eugenio ; Sirchia, Silvia M ; Squeo, Gabriella Maria ; Tabano, Silvia ; Tabolacci, Elisabetta ; Torrente, Isabella ; Genuardi, Maurizio ; Neri, Giovanni ; Riccio, Andrea</creatorcontrib><description>DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes11040355</identifier><identifier>PMID: 32224912</identifier><language>eng</language><publisher>Switzerland: MDPI</publisher><subject>DNA Methylation ; Epigenomics ; Genetic Diseases, Inborn - diagnosis ; Genetic Diseases, Inborn - genetics ; Genome, Human ; Humans ; Phenotype ; Review</subject><ispartof>Genes, 2020-03, Vol.11 (4), p.355</ispartof><rights>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-480c6ae504b3718fe2b26203bee43df291a469ba6ac61e1ee93a713034d0b7913</citedby><cites>FETCH-LOGICAL-c387t-480c6ae504b3718fe2b26203bee43df291a469ba6ac61e1ee93a713034d0b7913</cites><orcidid>0000-0002-5260-6691 ; 0000-0001-5078-928X ; 0000-0002-4707-2242 ; 0000-0002-5893-0193 ; 0000-0001-7990-3576 ; 0000-0003-3794-3021 ; 0000-0002-4408-8062 ; 0000-0003-4283-0988 ; 0000-0002-6106-3721 ; 0000-0002-6775-5972 ; 0000-0002-7410-8351 ; 0000-0003-4352-945X ; 0000-0001-9079-9175 ; 0000-0002-1165-7935</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231024/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231024/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32224912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cerrato, Flavia</creatorcontrib><creatorcontrib>Sparago, Angela</creatorcontrib><creatorcontrib>Ariani, Francesca</creatorcontrib><creatorcontrib>Brugnoletti, Fulvia</creatorcontrib><creatorcontrib>Calzari, Luciano</creatorcontrib><creatorcontrib>Coppedè, Fabio</creatorcontrib><creatorcontrib>De Luca, Alessandro</creatorcontrib><creatorcontrib>Gervasini, Cristina</creatorcontrib><creatorcontrib>Giardina, Emiliano</creatorcontrib><creatorcontrib>Gurrieri, Fiorella</creatorcontrib><creatorcontrib>Lo Nigro, Cristiana</creatorcontrib><creatorcontrib>Merla, Giuseppe</creatorcontrib><creatorcontrib>Miozzo, Monica</creatorcontrib><creatorcontrib>Russo, Silvia</creatorcontrib><creatorcontrib>Sangiorgi, Eugenio</creatorcontrib><creatorcontrib>Sirchia, Silvia M</creatorcontrib><creatorcontrib>Squeo, Gabriella Maria</creatorcontrib><creatorcontrib>Tabano, Silvia</creatorcontrib><creatorcontrib>Tabolacci, Elisabetta</creatorcontrib><creatorcontrib>Torrente, Isabella</creatorcontrib><creatorcontrib>Genuardi, Maurizio</creatorcontrib><creatorcontrib>Neri, Giovanni</creatorcontrib><creatorcontrib>Riccio, Andrea</creatorcontrib><title>DNA Methylation in the Diagnosis of Monogenic Diseases</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.</description><subject>DNA Methylation</subject><subject>Epigenomics</subject><subject>Genetic Diseases, Inborn - diagnosis</subject><subject>Genetic Diseases, Inborn - genetics</subject><subject>Genome, Human</subject><subject>Humans</subject><subject>Phenotype</subject><subject>Review</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkM1PAjEQxRujEYIcvZo9elmddrpfFxMCfiWgFz033WUWapYWt4sJ_701IIG5zGTml_cmj7FrDneIBdwvyJLnHCRgkpyxvoAMYylFcn4099jQ-y8IJUEAJJesh0IIWXDRZ-nkbRTNqFtuG90ZZyNjo25J0cTohXXe-MjV0cxZF6xMFdaetCd_xS5q3Xga7vuAfT49foxf4un78-t4NI0rzLMuljlUqaYEZIkZz2sSpUgFYEkkcV6LgmuZFqVOdZVy4kQF6owjoJxDmRUcB-xhp7velCuaV2S7Vjdq3ZqVbrfKaaNOL9Ys1cL9qEwgByGDwO1eoHXfG_KdWhlfUdNoS27jlcBc5iEMXgQ03qFV67xvqT7YcFB_cauTuAN_c_zbgf4PF38Bk356vQ</recordid><startdate>20200326</startdate><enddate>20200326</enddate><creator>Cerrato, Flavia</creator><creator>Sparago, Angela</creator><creator>Ariani, Francesca</creator><creator>Brugnoletti, Fulvia</creator><creator>Calzari, Luciano</creator><creator>Coppedè, Fabio</creator><creator>De Luca, Alessandro</creator><creator>Gervasini, Cristina</creator><creator>Giardina, Emiliano</creator><creator>Gurrieri, Fiorella</creator><creator>Lo Nigro, Cristiana</creator><creator>Merla, Giuseppe</creator><creator>Miozzo, Monica</creator><creator>Russo, Silvia</creator><creator>Sangiorgi, Eugenio</creator><creator>Sirchia, Silvia M</creator><creator>Squeo, Gabriella Maria</creator><creator>Tabano, Silvia</creator><creator>Tabolacci, Elisabetta</creator><creator>Torrente, Isabella</creator><creator>Genuardi, Maurizio</creator><creator>Neri, Giovanni</creator><creator>Riccio, Andrea</creator><general>MDPI</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>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-5260-6691</orcidid><orcidid>https://orcid.org/0000-0001-5078-928X</orcidid><orcidid>https://orcid.org/0000-0002-4707-2242</orcidid><orcidid>https://orcid.org/0000-0002-5893-0193</orcidid><orcidid>https://orcid.org/0000-0001-7990-3576</orcidid><orcidid>https://orcid.org/0000-0003-3794-3021</orcidid><orcidid>https://orcid.org/0000-0002-4408-8062</orcidid><orcidid>https://orcid.org/0000-0003-4283-0988</orcidid><orcidid>https://orcid.org/0000-0002-6106-3721</orcidid><orcidid>https://orcid.org/0000-0002-6775-5972</orcidid><orcidid>https://orcid.org/0000-0002-7410-8351</orcidid><orcidid>https://orcid.org/0000-0003-4352-945X</orcidid><orcidid>https://orcid.org/0000-0001-9079-9175</orcidid><orcidid>https://orcid.org/0000-0002-1165-7935</orcidid></search><sort><creationdate>20200326</creationdate><title>DNA Methylation in the Diagnosis of Monogenic Diseases</title><author>Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca ; Brugnoletti, Fulvia ; Calzari, Luciano ; Coppedè, Fabio ; De Luca, Alessandro ; Gervasini, Cristina ; Giardina, Emiliano ; Gurrieri, Fiorella ; Lo Nigro, Cristiana ; Merla, Giuseppe ; Miozzo, Monica ; Russo, Silvia ; Sangiorgi, Eugenio ; Sirchia, Silvia M ; Squeo, Gabriella Maria ; Tabano, Silvia ; Tabolacci, Elisabetta ; Torrente, Isabella ; Genuardi, Maurizio ; Neri, Giovanni ; Riccio, Andrea</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-480c6ae504b3718fe2b26203bee43df291a469ba6ac61e1ee93a713034d0b7913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>DNA Methylation</topic><topic>Epigenomics</topic><topic>Genetic Diseases, Inborn - diagnosis</topic><topic>Genetic Diseases, Inborn - genetics</topic><topic>Genome, Human</topic><topic>Humans</topic><topic>Phenotype</topic><topic>Review</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cerrato, Flavia</creatorcontrib><creatorcontrib>Sparago, Angela</creatorcontrib><creatorcontrib>Ariani, Francesca</creatorcontrib><creatorcontrib>Brugnoletti, Fulvia</creatorcontrib><creatorcontrib>Calzari, Luciano</creatorcontrib><creatorcontrib>Coppedè, Fabio</creatorcontrib><creatorcontrib>De Luca, Alessandro</creatorcontrib><creatorcontrib>Gervasini, Cristina</creatorcontrib><creatorcontrib>Giardina, Emiliano</creatorcontrib><creatorcontrib>Gurrieri, Fiorella</creatorcontrib><creatorcontrib>Lo Nigro, Cristiana</creatorcontrib><creatorcontrib>Merla, Giuseppe</creatorcontrib><creatorcontrib>Miozzo, Monica</creatorcontrib><creatorcontrib>Russo, Silvia</creatorcontrib><creatorcontrib>Sangiorgi, Eugenio</creatorcontrib><creatorcontrib>Sirchia, Silvia M</creatorcontrib><creatorcontrib>Squeo, Gabriella Maria</creatorcontrib><creatorcontrib>Tabano, Silvia</creatorcontrib><creatorcontrib>Tabolacci, Elisabetta</creatorcontrib><creatorcontrib>Torrente, Isabella</creatorcontrib><creatorcontrib>Genuardi, Maurizio</creatorcontrib><creatorcontrib>Neri, Giovanni</creatorcontrib><creatorcontrib>Riccio, Andrea</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cerrato, Flavia</au><au>Sparago, Angela</au><au>Ariani, Francesca</au><au>Brugnoletti, Fulvia</au><au>Calzari, Luciano</au><au>Coppedè, Fabio</au><au>De Luca, Alessandro</au><au>Gervasini, Cristina</au><au>Giardina, Emiliano</au><au>Gurrieri, Fiorella</au><au>Lo Nigro, Cristiana</au><au>Merla, Giuseppe</au><au>Miozzo, Monica</au><au>Russo, Silvia</au><au>Sangiorgi, Eugenio</au><au>Sirchia, Silvia M</au><au>Squeo, Gabriella Maria</au><au>Tabano, Silvia</au><au>Tabolacci, Elisabetta</au><au>Torrente, Isabella</au><au>Genuardi, Maurizio</au><au>Neri, Giovanni</au><au>Riccio, Andrea</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>DNA Methylation in the Diagnosis of Monogenic Diseases</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2020-03-26</date><risdate>2020</risdate><volume>11</volume><issue>4</issue><spage>355</spage><pages>355-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.</abstract><cop>Switzerland</cop><pub>MDPI</pub><pmid>32224912</pmid><doi>10.3390/genes11040355</doi><orcidid>https://orcid.org/0000-0002-5260-6691</orcidid><orcidid>https://orcid.org/0000-0001-5078-928X</orcidid><orcidid>https://orcid.org/0000-0002-4707-2242</orcidid><orcidid>https://orcid.org/0000-0002-5893-0193</orcidid><orcidid>https://orcid.org/0000-0001-7990-3576</orcidid><orcidid>https://orcid.org/0000-0003-3794-3021</orcidid><orcidid>https://orcid.org/0000-0002-4408-8062</orcidid><orcidid>https://orcid.org/0000-0003-4283-0988</orcidid><orcidid>https://orcid.org/0000-0002-6106-3721</orcidid><orcidid>https://orcid.org/0000-0002-6775-5972</orcidid><orcidid>https://orcid.org/0000-0002-7410-8351</orcidid><orcidid>https://orcid.org/0000-0003-4352-945X</orcidid><orcidid>https://orcid.org/0000-0001-9079-9175</orcidid><orcidid>https://orcid.org/0000-0002-1165-7935</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2073-4425 |
| ispartof | Genes, 2020-03, Vol.11 (4), p.355 |
| issn | 2073-4425 2073-4425 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7231024 |
| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
| subjects | DNA Methylation Epigenomics Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genome, Human Humans Phenotype Review |
| title | DNA Methylation in the Diagnosis of Monogenic Diseases |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T23%3A19%3A40IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=DNA%20Methylation%20in%20the%20Diagnosis%20of%20Monogenic%20Diseases&rft.jtitle=Genes&rft.au=Cerrato,%20Flavia&rft.date=2020-03-26&rft.volume=11&rft.issue=4&rft.spage=355&rft.pages=355-&rft.issn=2073-4425&rft.eissn=2073-4425&rft_id=info:doi/10.3390/genes11040355&rft_dat=%3Cproquest_pubme%3E2384822419%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2384822419&rft_id=info:pmid/32224912&rfr_iscdi=true |