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

Monk, David, Mackay, Deborah J. G., 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). pp. 235-248. ISSN 1471-0056

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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.

Item Type: Article
Additional Information: Funding Information: The authors thank F. Cerrato, M. V. Cubellis and A. Sparago for careful reading of the manuscript. The authors apologize to all authors of studies that could not be cited owing to the concise nature of this Review. Individual authors thank the following funders for research support: Ministry of Education, Universities and Research, Research Projects of National Interest (MIUR PRIN) 2015 (JHLY35), Telethon-Italia (GGP15131 and AIRC IG18671) (A.R.); Deutsche Forschungsgemeinschaft (DFG) (EG110/15-1) (T.E.); Spanish Ministry of Economy and Competitiveness (MINECO; BFU2014-53093-R and BFU2017-85571-R) co-funded with the European Union Regional Development Fund (FEDER) (D.M.). E.R.M. acknowledges support from National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre and an NIHR Senior Investigator Award. The University of Cambridge has received salary support in respect of E.R.M. from the National Health Service (NHS) in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NIHR, NHS or Department of Health. Publisher Copyright: © 2019, Springer Nature Limited.
Uncontrolled Keywords: molecular biology,genetics,genetics(clinical),sdg 3 - good health and well-being ,/dk/atira/pure/subjectarea/asjc/1300/1312
Faculty \ School: Faculty of Science > School of Biological Sciences
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Depositing User: LivePure Connector
Date Deposited: 03 Nov 2022 12:31
Last Modified: 07 Nov 2022 00:49
DOI: 10.1038/s41576-018-0092-0

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