Balanced gene dosage control rather than parental origin underpins genomic imprinting.

ABSTRACT: Mammalian parental imprinting represents an exquisite form of epigenetic control regulating the parent-specific monoallelic expression of genes in clusters. While imprinting perturbations are widely associated with developmental abnormalities, the intricate regional interplay between imprinted genes makes interpreting the contribution of gene dosage effects to phenotypes a challenging task. Using mouse models with distinct deletions in an intergenic region controlling imprinting across the Dlk1-Dio3 domain, we link changes in genetic and epigenetic states to allelic-expression and phenotypic outcome in vivo. This determined how hierarchical interactions between regulatory elements orchestrate robust parent-specific expression, with implications for non-imprinted gene regulation. Strikingly

SUBMITTER: Weinberg-Shukron A 

PROVIDER: S-EPMC9338321 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature