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

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development. Its disruption leads to human disease involving isolated or multi-locus epigenetic changes that can be traced back to alterations of cis-acting sequences or trans-acting factors controlling the establishment, maintenance and erasure of germline epigenetic imprints or may have no evident genetic cause. 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. In this Review, we discuss the latest advances in the study of genomic imprinting, focusing on the imprinting life-cycle and its possible errors leading to human diseases. We discuss the modes of inheritance of imprinting defects and 2 evidences from humans and animal models that environmental factors may influence genomic imprinting. Finally, we highlight areas requiring additional research that could complete our understanding of imprinting disorders, as well as new technological advances that might correct imprinting errors.
1471-0056
235-248
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Eggermann, Thomas
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Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954
Monk, David
3afd0958-2e57-4135-a20a-462f59dce4d5
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Maher, Eamonn R
0ffc76f0-a381-4cc0-ba2b-7f5df847e161
Riccio, Andrea
0ac5879d-b47d-4c9f-beaf-ba15c0794954

Monk, David, Mackay, Deborah, Eggermann, Thomas, Maher, Eamonn R and Riccio, Andrea (2019) Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nature Reviews Genetics, 20 (4), 235-248. (doi:10.1038/s41576-018-0092-0).

Record type: Article

Abstract

Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development. Its disruption leads to human disease involving isolated or multi-locus epigenetic changes that can be traced back to alterations of cis-acting sequences or trans-acting factors controlling the establishment, maintenance and erasure of germline epigenetic imprints or may have no evident genetic cause. 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. In this Review, we discuss the latest advances in the study of genomic imprinting, focusing on the imprinting life-cycle and its possible errors leading to human diseases. We discuss the modes of inheritance of imprinting defects and 2 evidences from humans and animal models that environmental factors may influence genomic imprinting. Finally, we highlight areas requiring additional research that could complete our understanding of imprinting disorders, as well as new technological advances that might correct imprinting errors.

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More information

Accepted/In Press date: 11 December 2018
e-pub ahead of print date: 15 January 2019
Published date: 1 April 2019

Identifiers

Local EPrints ID: 427481
URI: https://eprints.soton.ac.uk/id/eprint/427481
ISSN: 1471-0056
PURE UUID: 312aa76d-2813-4d7c-9370-cbcd5da2c39e
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 18 Jan 2019 17:30
Last modified: 15 Aug 2019 04:02

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Contributors

Author: David Monk
Author: Deborah Mackay ORCID iD
Author: Thomas Eggermann
Author: Eamonn R Maher
Author: Andrea Riccio

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