Genomic imprinting disorders: Lessons on how genome, epigenome and environment interact

David Monk, Deborah J. G. Mackay, Thomas Eggermann, Eamonn R. Maher, Andrea Riccio

Research output: Contribution to journalReview articlepeer-review

165 Citations (Scopus)

Abstract

Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease. Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis-acting elements or trans-acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. Recent insights into the dynamics of the epigenome, including the effect of environmental factors, suggest that the developmental outcomes and heritability of imprinting disorders are influenced by interactions between the genome, the epigenome and the environment in germ cells and early embryos.

Original languageEnglish
Pages (from-to)235-248
Number of pages14
JournalNature Reviews Genetics
Volume20
Issue number4
Early online date15 Jan 2019
DOIs
Publication statusPublished - Apr 2019

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