ICF syndrome cells as a model system for studying X chromosome inactivation |
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Authors: | Gartler S M Hansen R S |
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Institution: | Department of Medicine, University of Washington, Seattle WA 98195-7720, USA. gartler@genetics.washington.edu |
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Abstract: | 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. |
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