A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations

Abstract Genomic imprinting controls parental allele-specific gene expression via epigenetic mechanisms. Abnormal imprinting at the GNAS gene causes multiple phenotypes, including pseudohypoparathyroidism type-1B (PHP1B), a disorder of multihormone resistance. Microdeletions affecting the neighborin...

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Bibliographic Details
Main Authors: Yorihiro Iwasaki, Monica Reyes, Harald Jüppner, Murat Bastepe
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-56608-0
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