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Article

Oct motif variants in Beckwith-Wiedemann syndrome patients disrupt maintenance of the hypomethylated state of the H19/IGF2 imprinting control region.

FEBS letters - 1 May 2020

Kubo Shuichi, Murata Chihiro, Okamura Hanayo, Sakasegawa Taku, Sakurai Chiye, Hatsuzawa Kiyotaka, Hori Naohiro

Abstract excerpt

The methylation status of imprinting control center 1 (IC1) regulates the monoallelic transcription of H19 and Igf2 in mammalian cells. Several single nucleotide variants in Oct motifs within IC1 occur in patients with Beckwith-Wiedemann syndrome (BWS) who have hypermethylated maternal IC1. However, the importance of Oct motifs in the regulation of IC1 methylation status remains unclear. Here, we demonstrate that...

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PMID: 32012256
DOI: 10.1002/1873-3468.13750

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