Article
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.
Human molecular genetics - 1 Nov 2000
Hansen R S, Stöger R, Wijmenga C, Stanek A M, Canfield T K, Luo P, Matarazzo M R, D'Esposito M, Feil R, Gimelli G, Weemaes C M, Laird C D, Gartler S M
Abstract excerpt
Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome. We, as well as others, have found that these effects derive from mutations in the DNMT3B DNA methyltransferase gene. Here we examine further the molecular phenotype of ICF cells and report several examples of extensive hypomethylation that are associated with advanced...
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