Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome

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-e19464
Hauptverfasser:	Brun, Marie-Elisabeth, Lana, Erica, Rivals, Isabelle, Lefranc, Gérard, Sarda, Pierre, Claustres, Mireille, Mégarbané, André, De Sario, Albertina
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylation Adolescent Adult Anomalies B cells Biology Cancer Centromere - ultrastructure Child Child, Preschool Chromatin Deoxyribonucleic acid Disruption DNA DNA (Cytosine-5-)-Methyltransferases - genetics DNA (Cytosine-5-)-Methyltransferases - physiology DNA binding proteins DNA methylation DNA methyltransferase DNA Methyltransferase 3B Epigenesis, Genetic Epigenetic inheritance Euchromatin Euchromatin - metabolism Face - abnormalities Female Gene expression Gene silencing Genes Genetic variability Genetic Variation Genomes Hereditary diseases Heterochromatin Heterochromatin - genetics Heterochromatin - metabolism Histones Histones - metabolism Humans ICF syndrome Immunodeficiency Localization Lymphoblasts Male Methylation Methyltransferases Middle Aged Mutation Patients Peripheral blood Phenotype Stability Stem cells Syndrome Transcription activation
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