Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies
Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anom...
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| Veröffentlicht in: | PloS one 2011-04, Vol.6 (4), p.e19464 |
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| creator | Brun, Marie-Elisabeth Lana, Erica Rivals, Isabelle Lefranc, Gérard Sarda, Pierre Claustres, Mireille Mégarbané, André De Sario, Albertina |
| description | Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. |
| doi_str_mv | 10.1371/journal.pone.0019464 |
| format | Article |
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| language | eng |
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| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS) Journals Open Access; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | B cells Chromatin DNA DNA binding proteins Epigenetic inheritance Gene expression Genes Histones Immunodeficiency Methylation Methyltransferases |
| title | Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies |
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