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The phenomenal epigenome in neurodevelopmental disorders

Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular netw...

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Autores principales: Ciptasari, Ummi, van Bokhoven, Hans
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530535/
https://www.ncbi.nlm.nih.gov/pubmed/32766754
http://dx.doi.org/10.1093/hmg/ddaa175
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author Ciptasari, Ummi
van Bokhoven, Hans
author_facet Ciptasari, Ummi
van Bokhoven, Hans
author_sort Ciptasari, Ummi
collection PubMed
description Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders.
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spelling pubmed-75305352020-10-07 The phenomenal epigenome in neurodevelopmental disorders Ciptasari, Ummi van Bokhoven, Hans Hum Mol Genet Invited Review Article Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders. Oxford University Press 2020-08-07 /pmc/articles/PMC7530535/ /pubmed/32766754 http://dx.doi.org/10.1093/hmg/ddaa175 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Invited Review Article
Ciptasari, Ummi
van Bokhoven, Hans
The phenomenal epigenome in neurodevelopmental disorders
title The phenomenal epigenome in neurodevelopmental disorders
title_full The phenomenal epigenome in neurodevelopmental disorders
title_fullStr The phenomenal epigenome in neurodevelopmental disorders
title_full_unstemmed The phenomenal epigenome in neurodevelopmental disorders
title_short The phenomenal epigenome in neurodevelopmental disorders
title_sort phenomenal epigenome in neurodevelopmental disorders
topic Invited Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530535/
https://www.ncbi.nlm.nih.gov/pubmed/32766754
http://dx.doi.org/10.1093/hmg/ddaa175
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