Article
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014
Maeda Toshiyuki, Higashimoto Ken, Jozaki Kosuke, Yatsuki Hitomi, Nakabayashi Kazuhiko, Makita Yoshio, Tonoki Hidefumi, Okamoto Nobuhiko, Takada Fumio, Ohashi Hirofumi, Migita Makoto, Kosaki Rika, Matsubara Keiko, Ogata Tsutomu, Matsuo Muneaki, Hamasaki Yuhei, Ohtsuka Yasufumi, Nishioka Kenichi, Joh Keiichiro, Mukai Tsunehiro, Hata Kenichiro, Soejima Hidenobu
Abstract excerpt
PURPOSE: Expression of imprinted genes is regulated by DNA methylation of differentially methylated regions (DMRs). Beckwith-Wiedemann syndrome is an imprinting disorder caused by epimutations of DMRs at 11p15.5. To date, multiple methylation defects have been reported in Beckwith-Wiedemann syndrome patients with epimutations; however, limited numbers of DMRs have been analyzed. The susceptibility of DMRs to...
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