Identification of genetic and non-genetic modifiers of genomic imprinting through whole genome screening in humans
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Le résumé fourni par la source
Abstract Genomic imprinting is required for normal development, and abnormal methylation of differentially methylated regions (iDMRs) controlling the parent of origin-dependent expression of the imprinted genes has been found in constitutional disorders affecting growth, metabolism, neurobehavior, and in cancer. In most of these cases the cause of the imprinting abnormalities is unknown. Also, these studies have generally been performed on a limited number of CpGs, and a systematic investigation of iDMR methylation in the general population is lacking. By analysing the iDMRs in a large number of peripheral blood DNA methylation array datasets of unaffected individuals and patients with rare disorders, we determined the most common iDMR methylation profiles and identified many genetic and non-genetic factors contributing to their variability. We found that methylation variability is not homogeneous within the iDMRs and that the CpGs closer to the ZFP57 binding sites are less susceptible to methylation changes. We demonstrated the methylation polymorphism of three iDMRs and the atypical behaviour of several others, and reported the association of 25 disease- and 47 non-disease-complex traits, including blood cell type composition, as well as 15 mendelian or chromosomal disorders, with iDMR methylation changes in blood DNA. These findings identify several genetic and non-genetic factors associated with genomic imprinting maintenance in humans, which may have a role in the aetiology of the diseases associated with imprinting abnormalities and have clear implications in molecular diagnostics.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Identification of genetic and non-genetic modifiers of genomic imprinting through whole genome screening in humans
- Date Crossref
- 01/04/2025
- Éditeur
- openRxiv
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Campania "Luigi Vanvitelli" pays non établi dans la noticeUniversité ou école supérieure
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Institute of Genetics and Biophysics pays non établi dans la noticeStructure de recherche
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Western University Department of Pathology and Laboratory Medicine pays non établi dans la noticeUniversité ou école supérieure
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London Health Sciences Centre pays non établi dans la noticeÉtablissement de santé
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Federico II University Hospital pays non établi dans la noticeÉtablissement de santé
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University of Naples Federico II pays non établi dans la noticeUniversité ou école supérieure
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Istituto per le Applicazioni del Calcolo Mauro Picone pays non établi dans la noticeStructure de recherche
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Department of Environmental pays non établi dans la noticeInstitution
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Verspeeten Clinical Genome Centre pays non établi dans la noticeÉtablissement de santé
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University of Naples “Federico II Department of Biology pays non établi dans la noticeUniversité ou école supérieure
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Istituto per le Applicazioni del Calcolo (IAC) “Mauro Picone” pays non établi dans la noticeInstitution
University of Campania "Luigi Vanvitelli", Institute of Genetics and Biophysics et Department of Pathology and Laboratory Medicine — Western University, avec 8 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.