Takuro Horii(1), Sumiyo Morita(1), Shinjiro Hino(2), Mika Kimura(1), Yuko Hino(2), Hiroshi Kogo(3), Mitsuyoshi Nakao(2), Izuho Hatada(1) （１）Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation. （２）Department of Medical Cell Biology, Institute of Molecular Embryology and Genetics, Kumamoto University. （３）Department of Anatomy and Cell Biology, Graduate School of Medicine, Gunma University.
We validate three methods for the generation of epigenome-edited mice using the dCas9-SunTag and single-chain variable fragment-TET1 catalytic domain. We generate model mice for Silver-Russell syndrome (SRS), an imprinting disorder, by target-specific DNA demethylation in the H19 differentially methylated region. Like SRS patients, these mice show H19 upregulation and Igf2 downregulation, leading to severe intrauterine and postnatal growth retardation.
Successful generation of epigenetic disease model mice by targeted demethylation of the epigenome, Takuro Horii, Sumiyo Morita, Shinjiro Hino, Mika Kimura, Yuko Hino, Hiroshi Kogo, Mitsuyoshi Nakao, Izuho Hatada* DOI 番号：10.1186/s13059-020-01991-8