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Germ‐cell‐specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders

Germ‐cell‐specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in... Accumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper‐ or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD. However, compared to these epigenetic changes in the sperm of aged males, the effects of inherited predisposition from germ cells are largely unknown. Here, we use single‐cell transcriptome data sets from 13 cell lines, including 12 ASD‐associated CNVs models and control, that are performed neural differentiation from mouse embryonic stem cells. This study performed comprehensive bioinformatic analyses such as gene ontology (GO), network, pathway, and upstream regulator analyses. Through these analyses, we identify several susceptible pathways, such as chromatin and ubiquitin, in addition to translational and oxidative phosphorylation. Our results suggest that dysregulation of epigenetic chromosome remodeling and ubiquitin‐proteasome pathway in the germ cell is a possible modulator for subsequent differentiated cells, sperm, and egg, as a risk factor for the neurodevelopmental disorder. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Autism Research Wiley

Germ‐cell‐specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders

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References (49)

Publisher
Wiley
Copyright
© 2023 International Society for Autism Research and Wiley Periodicals LLC.
ISSN
1939-3792
eISSN
1939-3806
DOI
10.1002/aur.2939
Publisher site
See Article on Publisher Site

Abstract

Accumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper‐ or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD. However, compared to these epigenetic changes in the sperm of aged males, the effects of inherited predisposition from germ cells are largely unknown. Here, we use single‐cell transcriptome data sets from 13 cell lines, including 12 ASD‐associated CNVs models and control, that are performed neural differentiation from mouse embryonic stem cells. This study performed comprehensive bioinformatic analyses such as gene ontology (GO), network, pathway, and upstream regulator analyses. Through these analyses, we identify several susceptible pathways, such as chromatin and ubiquitin, in addition to translational and oxidative phosphorylation. Our results suggest that dysregulation of epigenetic chromosome remodeling and ubiquitin‐proteasome pathway in the germ cell is a possible modulator for subsequent differentiated cells, sperm, and egg, as a risk factor for the neurodevelopmental disorder.

Journal

Autism Research – Wiley

Published: Jun 1, 2023

Keywords: autism spectrum disorder; bioinformatics; copy number variants; embryonic stem cells; germ cells; single‐cell analysis

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