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Title: | Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naı¨ve-to-memory B-cell transition |
Author: | Rodríguez Cortez, Virginia Carolina Pino Molina, Lucia Del Rodríguez Ubreva, Javier Ciudad, Laura Gómez Cabrero, David Company, Carlos Urquiza, José M. Tegnér, Jesper Rodríguez-Gallego, Carlos López Granados, Eduardo Ballestar Tarín, Esteban |
Keywords: | Immunodeficiència ADN Cèl·lules B Immunodeficiency DNA B cells |
Issue Date: | 1-Jun-2015 |
Publisher: | Nature Publishing Group |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/ncomms8335 |
It is part of: | Nature Communications, 2015, vol. 6 |
URI: | http://hdl.handle.net/2445/126092 |
Related resource: | https://doi.org/10.1038/ncomms8335 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Publicacions de projectes de recerca finançats per la UE |
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