Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith–Wiedemann syndrome-like overgrowth

Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith–Wiedemann syndrome-like overgrowth

Abstract Beckwith-Wiedemann syndrome (BWS) is caused by a gain of methylation (GOM) at the imprinting control region within the Igf2-H19 domain on the maternal allele (H19-ICR GOM). Mutations in the binding sites of several transcription factors are involved in H19-ICR GOM and BWS. However, the resp...

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Main Authors: Satoshi Hara, Fumikazu Matsuhisa, Shuji Kitajima, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Ken Higashimoto, Hidenobu Soejima
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-024-07323-x
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https://doi.org/10.1038/s42003-024-07323-x

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