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Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders / Sawako Furukawa in Autism Research, 16-6 (June 2023)
[article]
Titre : Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Sawako Furukawa, Auteur ; Jun NOMURA, Auteur ; Hiroaki Hanafusa, Auteur ; Hiroko Maegawa, Auteur ; Toru TAKUMI, Auteur Article en page(s) : p.1101-1110 Langues : Anglais (eng) Mots-clés : autism spectrum disorder bioinformatics copy number variants embryonic stem cells germ cells single-cell analysis Index. décimale : PER Périodiques Résumé : 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. En ligne : https://doi.org/10.1002/aur.2939 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507
in Autism Research > 16-6 (June 2023) . - p.1101-1110[article] Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders [Texte imprimé et/ou numérique] / Sawako Furukawa, Auteur ; Jun NOMURA, Auteur ; Hiroaki Hanafusa, Auteur ; Hiroko Maegawa, Auteur ; Toru TAKUMI, Auteur . - p.1101-1110.
Langues : Anglais (eng)
in Autism Research > 16-6 (June 2023) . - p.1101-1110
Mots-clés : autism spectrum disorder bioinformatics copy number variants embryonic stem cells germ cells single-cell analysis Index. décimale : PER Périodiques Résumé : 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. En ligne : https://doi.org/10.1002/aur.2939 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507 Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders / Jill ESCHER in Journal of Autism and Developmental Disorders, 52-10 (October 2022)
[article]
Titre : Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Jill ESCHER, Auteur ; Wei YAN, Auteur ; Emilie F. RISSMAN, Auteur ; Hsiao-Lin V. WANG, Auteur ; Arturo HERNANDEZ, Auteur ; Victor G. CORCES, Auteur Article en page(s) : p.4608-4624 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Epigenetics Gene expression Genetic toxicology Germ cells Non-genetic inheritance Index. décimale : PER Périodiques Résumé : Investigations into the etiology of autism spectrum disorders have been largely confined to two realms: variations in DNA sequence and somatic developmental exposures. Here we suggest a third route-disruption of the germline epigenome induced by exogenous toxicants during a parent's gamete development. Similar to cases of germline mutation, these molecular perturbations may produce dysregulated transcription of brain-related genes during fetal and early development, resulting in abnormal neurobehavioral phenotypes in offspring. Many types of exposures may have these impacts, and here we discuss examples of anesthetic gases, tobacco components, synthetic steroids, and valproic acid. Alterations in parental germline could help explain some unsolved phenomena of autism, including increased prevalence, missing heritability, skewed sex ratio, and heterogeneity of neurobiology and behavior. En ligne : http://dx.doi.org/10.1007/s10803-021-05304-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4608-4624[article] Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Jill ESCHER, Auteur ; Wei YAN, Auteur ; Emilie F. RISSMAN, Auteur ; Hsiao-Lin V. WANG, Auteur ; Arturo HERNANDEZ, Auteur ; Victor G. CORCES, Auteur . - p.4608-4624.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4608-4624
Mots-clés : Autism spectrum disorder Epigenetics Gene expression Genetic toxicology Germ cells Non-genetic inheritance Index. décimale : PER Périodiques Résumé : Investigations into the etiology of autism spectrum disorders have been largely confined to two realms: variations in DNA sequence and somatic developmental exposures. Here we suggest a third route-disruption of the germline epigenome induced by exogenous toxicants during a parent's gamete development. Similar to cases of germline mutation, these molecular perturbations may produce dysregulated transcription of brain-related genes during fetal and early development, resulting in abnormal neurobehavioral phenotypes in offspring. Many types of exposures may have these impacts, and here we discuss examples of anesthetic gases, tobacco components, synthetic steroids, and valproic acid. Alterations in parental germline could help explain some unsolved phenomena of autism, including increased prevalence, missing heritability, skewed sex ratio, and heterogeneity of neurobiology and behavior. En ligne : http://dx.doi.org/10.1007/s10803-021-05304-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations / M. ULJAREVIC in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
[article]
Titre : Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations Type de document : Texte imprimé et/ou numérique Auteurs : M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur Article en page(s) : p.414-422 Langues : Anglais (eng) Mots-clés : Anxiety/genetics Autism Spectrum Disorder/genetics Child Child, Preschool Germ Cells Germ-Line Mutation Humans PTEN Phosphohydrolase/genetics Parents Anxiety Executive functioning Insistence on sameness Macrocephaly Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p?0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422[article] Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations [Texte imprimé et/ou numérique] / M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur . - p.414-422.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422
Mots-clés : Anxiety/genetics Autism Spectrum Disorder/genetics Child Child, Preschool Germ Cells Germ-Line Mutation Humans PTEN Phosphohydrolase/genetics Parents Anxiety Executive functioning Insistence on sameness Macrocephaly Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p?0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455