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Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network

Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network
Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network
Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally expressed genes suppress it. The evolution of this correlation might be explained by the different interests of the maternal and paternal genomes, aiming for the conservation of maternal resources for multiple offspring versus extracting maximal maternal resources. Since not all imprinted genes in higher mammals show the same imprinting pattern in different species, the findings from animal models are not always transferable to human. Therefore, human imprinting disorders might serve as models to understand the complex regulation and interaction of imprinted loci. This knowledge is a prerequisite for the development of precise diagnostic tools and therapeutic strategies for patients affected by imprinting disorders. In this review we will specifically overview the current knowledge on imprinting disorders associated with growth retardation, and its increasing relevance in a personalised medicine direction and the need for a multidisciplinary therapeutic approach.
Differentially methylated regions, Growth restriction, Imprinted gene network, Imprinting disorders, Overgrowth, Prader-Willi syn-drome, Pseudoparahypoparathyreoidism, Silver-Russell syndrome, Temple syndrome, Transient neonatal diabetes
2073-4425
585
Eggermann, Thomas
21423bca-95c1-48cb-ba37-f1c4ad1ce964
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9
Tauber, Maithé
3146a2fe-8f69-4bf6-a788-6a262b7d8dd4
van den Akker, Erica
e769969d-1c62-4425-b5ab-6cdad12df220
Hokken-Koelega, Anita
dc05a04d-9e0d-41fc-bca5-d661d90cbeef
Johansson, Gudmundur
0de1b451-5fe5-47e1-92b9-bea0f5eb4762
Netchine, Irène
9bfd33e6-5f2c-42af-8b52-06a4340c97af
Eggermann, Thomas
21423bca-95c1-48cb-ba37-f1c4ad1ce964
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9
Tauber, Maithé
3146a2fe-8f69-4bf6-a788-6a262b7d8dd4
van den Akker, Erica
e769969d-1c62-4425-b5ab-6cdad12df220
Hokken-Koelega, Anita
dc05a04d-9e0d-41fc-bca5-d661d90cbeef
Johansson, Gudmundur
0de1b451-5fe5-47e1-92b9-bea0f5eb4762
Netchine, Irène
9bfd33e6-5f2c-42af-8b52-06a4340c97af

Eggermann, Thomas, Davies, Justin, Tauber, Maithé, van den Akker, Erica, Hokken-Koelega, Anita, Johansson, Gudmundur and Netchine, Irène (2021) Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network. Genes, 12 (4), 585. (doi:10.3390/genes12040585).

Record type: Review

Abstract

Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally expressed genes suppress it. The evolution of this correlation might be explained by the different interests of the maternal and paternal genomes, aiming for the conservation of maternal resources for multiple offspring versus extracting maximal maternal resources. Since not all imprinted genes in higher mammals show the same imprinting pattern in different species, the findings from animal models are not always transferable to human. Therefore, human imprinting disorders might serve as models to understand the complex regulation and interaction of imprinted loci. This knowledge is a prerequisite for the development of precise diagnostic tools and therapeutic strategies for patients affected by imprinting disorders. In this review we will specifically overview the current knowledge on imprinting disorders associated with growth retardation, and its increasing relevance in a personalised medicine direction and the need for a multidisciplinary therapeutic approach.

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genes-12-00585-v2 - Version of Record
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Accepted/In Press date: 12 April 2021
Published date: 17 April 2021
Additional Information: Funding Information: The authors are members of the European Reference Network on Rare Endocrine Conditions (https://endo-ern.eu/, accessed on 15 April 2021). Endo-ERN is a European Reference Network co funded by the European Union?s 3rd Health Programme (CHAFEA FPA grant No 739527). Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
Keywords: Differentially methylated regions, Growth restriction, Imprinted gene network, Imprinting disorders, Overgrowth, Prader-Willi syn-drome, Pseudoparahypoparathyreoidism, Silver-Russell syndrome, Temple syndrome, Transient neonatal diabetes

Identifiers

Local EPrints ID: 450376
URI: http://eprints.soton.ac.uk/id/eprint/450376
ISSN: 2073-4425
PURE UUID: 819b9287-654d-433d-b508-90644354150c

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Date deposited: 26 Jul 2021 16:32
Last modified: 16 Mar 2024 12:51

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Contributors

Author: Thomas Eggermann
Author: Justin Davies
Author: Maithé Tauber
Author: Erica van den Akker
Author: Anita Hokken-Koelega
Author: Gudmundur Johansson
Author: Irène Netchine

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