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Article

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

Communications biology - 2 Dec 2024

Hara Satoshi, Matsuhisa Fumikazu, Kitajima Shuji, Yatsuki Hitomi, Kubiura-Ichimaru Musashi, Higashimoto Ken, Soejima Hidenobu

Abstract excerpt

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 responsible sequence(s) for H19-ICR GOM with BWS-like overgrowth has not been identified in mice. Here, we report that a mutation...

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PMID: 39623082
DOI: 10.1038/s42003-024-07323-x
PMCID: PMC11612015

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CTCF

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Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth.PMID 39623082Read ↗

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