Balanced gene dosage control rather than parental origin underpins genomic imprinting

Ariella Weinberg-Shukron, Raz Ben-Yair, Nozomi Takahashi, Marko Dunjić, Alon Shtrikman, Carol A. Edwards, Anne C. Ferguson-Smith () and Yonatan Stelzer ()
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Ariella Weinberg-Shukron: Weizmann Institute of Science
Raz Ben-Yair: Weizmann Institute of Science
Nozomi Takahashi: University of Cambridge
Marko Dunjić: Weizmann Institute of Science
Alon Shtrikman: Weizmann Institute of Science
Carol A. Edwards: University of Cambridge
Anne C. Ferguson-Smith: University of Cambridge
Yonatan Stelzer: Weizmann Institute of Science

Nature Communications, 2022, vol. 13, issue 1, 1-12

Abstract: 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, flipping imprinting on the parental chromosomes by crossing genotypes of complete and partial intergenic element deletions rescues the lethality of each deletion on its own. Our work indicates that parental origin of an epigenetic state is irrelevant as long as appropriate balanced gene expression is established and maintained at imprinted loci.

Date: 2022
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DOI: 10.1038/s41467-022-32144-z

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