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dc.contributor.author | Rodriguez-Cortez, Virginia C | |
dc.contributor.author | del Pino-Molina, Lucia | |
dc.contributor.author | Rodriguez-Ubreva, Javier | |
dc.contributor.author | Ciudad, Laura | |
dc.contributor.author | Gomez-Cabrero, David | |
dc.contributor.author | Company, Carlos | |
dc.contributor.author | Urquiza, Jose M | |
dc.contributor.author | Tegner, Jesper | |
dc.contributor.author | Rodriguez-Gallego, Carlos | |
dc.contributor.author | Lopez-Granados, Eduardo | |
dc.contributor.author | Ballestar, Esteban | |
dc.date.accessioned | 2024-07-04T12:55:02Z | |
dc.date.available | 2024-07-04T12:55:02Z | |
dc.date.issued | 2015-06 | |
dc.identifier.citation | Rodriguez-Cortez VC, Del Pino-Molina L, Rodriguez-Ubreva J, Ciudad L, Gomez-Cabrero D, Company C, et al. Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naive-to-memory B-cell transition. Nat Commun. 2015 Jun;6:7335. | en |
dc.identifier.issn | 2041-1723 | |
dc.identifier.other | http://hdl.handle.net/20.500.13003/10830 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/20121 | |
dc.description.abstract | Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute to its aetiology. Here we perform a high-throughput DNA methylation analysis of this disorder using a pair of CVID-discordant MZ twins and show predominant gain of DNA methylation in CVID B cells with respect to those from the healthy sibling in critical B lymphocyte genes, such as PIK3CD, BCL2L1, RPS6KB2, TCF3 and KCNN4. Individual analysis confirms hypermethylation of these genes. Analysis in naive, unswitched and switched memory B cells in a CVID patient cohort shows impaired ability to demethylate and upregulate these genes in transitioning from naive to memory cells in CVID. Our results not only indicate a role for epigenetic alterations in CVID but also identify relevant DNA methylation changes in B cells that could explain the clinical manifestations of CVID individuals. | en |
dc.description.sponsorship | This work was supported by the Spanish Ministry of Economy and Competitiveness (MINECO; grant numbers SAF2011-29635 and SAF2009-09899), the Fundacion Ramon Areces (grant number CIVP16A1834) and EU FP7 306000 STATegra project. | es_ES |
dc.language.iso | eng | en |
dc.publisher | Nature Publishing Group | en |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject.mesh | Immunologic Memory | * |
dc.subject.mesh | B-Lymphocytes | * |
dc.subject.mesh | Case-Control Studies | * |
dc.subject.mesh | DNA Methylation | * |
dc.subject.mesh | Common Variable Immunodeficiency | * |
dc.subject.mesh | Gene Expression Regulation | * |
dc.subject.mesh | Humans | * |
dc.subject.mesh | Twins, Monozygotic | * |
dc.title | Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naive-to-memory B-cell transition | en |
dc.type | research article | en |
dc.rights.license | Attribution 4.0 International | * |
dc.identifier.pubmedID | 26081581 | es_ES |
dc.format.volume | 6 | es_ES |
dc.format.page | 7335 | es_ES |
dc.identifier.doi | 10.1038/ncomms8335 | |
dc.relation.publisherversion | https://dx.doi.org/10.1038/ncomms8335 | en |
dc.identifier.journal | Nature Communications | es_ES |
dc.rights.accessRights | open access | en |
dc.subject.decs | Regulación de la Expresión Génica | * |
dc.subject.decs | Gemelos Monocigóticos | * |
dc.subject.decs | Humanos | * |
dc.subject.decs | Inmunodeficiencia Variable Común | * |
dc.subject.decs | Linfocitos B | * |
dc.subject.decs | Metilación de ADN | * |
dc.subject.decs | Memoria Inmunológica | * |
dc.subject.decs | Estudios de Casos y Controles | * |
dc.identifier.scopus | 2-s2.0-84935897991 | |
dc.identifier.wos | 357172100018 | |
dc.identifier.pui | L604865275 |
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