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DNA Methylation in the Diagnosis of Monogenic Diseases
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| Zeitschriftentitel: | Genes |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , , , , , , , , |
| In: | Genes, 11, 2020, 4, S. 355 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
MDPI AG
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| Schlagwörter: |
| author_facet |
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 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 |
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 |
| spellingShingle |
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 Genes DNA Methylation in the Diagnosis of Monogenic Diseases Genetics (clinical) Genetics |
| author_sort |
cerrato, flavia |
| spelling |
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 2073-4425 MDPI AG Genetics (clinical) Genetics http://dx.doi.org/10.3390/genes11040355 <jats:p>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.</jats:p> DNA Methylation in the Diagnosis of Monogenic Diseases Genes |
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DNA Methylation in the Diagnosis of Monogenic Diseases |
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DNA Methylation in the Diagnosis of Monogenic Diseases |
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DNA Methylation in the Diagnosis of Monogenic Diseases |
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DNA Methylation in the Diagnosis of Monogenic Diseases |
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DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_short |
DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_sort |
dna methylation in the diagnosis of monogenic diseases |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.3390/genes11040355 |
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2020 |
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355 |
| description |
<jats:p>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.</jats:p> |
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| 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_facet | 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, 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 |
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| description | <jats:p>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.</jats:p> |
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| spelling | 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 2073-4425 MDPI AG Genetics (clinical) Genetics http://dx.doi.org/10.3390/genes11040355 <jats:p>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.</jats:p> DNA Methylation in the Diagnosis of Monogenic Diseases Genes |
| spellingShingle | 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, Genes, DNA Methylation in the Diagnosis of Monogenic Diseases, Genetics (clinical), Genetics |
| title | DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_full | DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_fullStr | DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_full_unstemmed | DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_short | DNA Methylation in the Diagnosis of Monogenic Diseases |
| title_sort | dna methylation in the diagnosis of monogenic diseases |
| title_unstemmed | DNA Methylation in the Diagnosis of Monogenic Diseases |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.3390/genes11040355 |