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 neighboring Bearings STX16 gene ablate an imprinting control r