ICF syndrome cells as a model system for studying X chromosome inactivation.
Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome. The targets of this DNA methyltransferase are CpG-rich heterochromatic regions, including pericentromeric satellites and the inactive X chromosome. The abnormal hypomethylation in ICF cells provides an important model system for determining the relationships between replication time, CpG island methylation, chromatin structure, and gene silencing in X chromosome inactivation.
Gartler
S M
SM
Department of Medicine, University of Washington, Seattle WA 98195-7720, USA. gartler@genetics.washington.edu
Hansen
R S
RS
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002503:Centromere / Q000235:genetics; D043171:Chromosomal Instability; D041321:Chromosomes, Human, X / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics; D019175:DNA Methylation; D004303:Dosage Compensation, Genetic; D005145:Face / Q000002:abnormalities; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000473:pathology; D013577:Syndrome; D000097584:DNA Methyltransferase 3B
D004248:DNA (Cytosine-5-)-Methyltransferases; D000097584:DNA Methyltransferase 3B