ICF syndrome cells as a model system for studying X chromosome inactivation

Cytogenet Genome Res. 2002;99(1-4):25-9. doi: 10.1159/000071571.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Centromere / genetics
  • Chromosomal Instability
  • Chromosomes, Human, X / genetics*
  • CpG Islands / genetics
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methylation
  • DNA Methyltransferase 3B
  • Dosage Compensation, Genetic*
  • Face / abnormalities
  • Humans
  • Immunologic Deficiency Syndromes / pathology
  • Syndrome

Substances

  • DNA (Cytosine-5-)-Methyltransferases