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Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function / Emily L. CASANOVA in Autism Research, 12-6 (June 2019)
[article]
Titre : Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function Type de document : Texte imprimé et/ou numérique Auteurs : Emily L. CASANOVA, Auteur ; A. E. SWITALA, Auteur ; S. DANDAMUDI, Auteur ; A. R. HICKMAN, Auteur ; J. VANDENBRINK, Auteur ; J. L. SHARP, Auteur ; F. A. FELTUS, Auteur ; Manuel F. CASANOVA, Auteur Année de publication : 2019 Article en page(s) : p.860-869 Langues : Anglais (eng) Mots-clés : DNA transposons central nervous system developmental genes retroelements Index. décimale : PER Périodiques Résumé : Previous research on autism risk (ASD), developmental regulatory (DevReg), and central nervous system (CNS) genes suggests they tend to be large in size, enriched in nested repeats, and mutation intolerant. The relevance of these genomic features is intriguing yet poorly understood. In this study, we investigated the feature landscape of these gene groups to discover structural themes useful in interpreting their function, developmental patterns, and evolutionary history. ASD, DevReg, CNS, housekeeping, and whole genome control (WGC) groups were compiled using various resources. Multiple gene features of interest were extracted from NCBI/UCSC Bioinformatics. Residual variation intolerance scores, Exome Aggregation Consortium pLI scores, and copy number variation data from Decipher were used to estimate variation intolerance. Gene age and protein-protein interactions (PPI) were estimated using Ensembl and EBI Intact databases, respectively. Compared to WGC: ASD, DevReg, and CNS genes are longer, produce larger proteins, maintain greater numbers/density of conserved noncoding elements and transposable elements, produce more transcript variants, and are comparatively variation intolerant. After controlling for gene size, mutation tolerance, and clinical association, ASD genes still retain many of these same features. In addition, we also found that ASD genes that are extremely mutation intolerant have larger PPI networks. These data support many of the recent findings within the field of autism genetics but also expand our understanding of the evolution of these broad gene groups, their potential regulatory complexity, and the extent to which they interact with the cellular network. Autism Res 2019, 12: 860-869. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism risk genes are more ancient compared to other genes in the genome. As such, they exhibit physical features related to their age, including long gene and protein size and regulatory sequences that help to control gene expression. They share many of these same features with other genes that are expressed in the brain and/or are associated with prenatal development. En ligne : https://dx.doi.org/10.1002/aur.2112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400
in Autism Research > 12-6 (June 2019) . - p.860-869[article] Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function [Texte imprimé et/ou numérique] / Emily L. CASANOVA, Auteur ; A. E. SWITALA, Auteur ; S. DANDAMUDI, Auteur ; A. R. HICKMAN, Auteur ; J. VANDENBRINK, Auteur ; J. L. SHARP, Auteur ; F. A. FELTUS, Auteur ; Manuel F. CASANOVA, Auteur . - 2019 . - p.860-869.
Langues : Anglais (eng)
in Autism Research > 12-6 (June 2019) . - p.860-869
Mots-clés : DNA transposons central nervous system developmental genes retroelements Index. décimale : PER Périodiques Résumé : Previous research on autism risk (ASD), developmental regulatory (DevReg), and central nervous system (CNS) genes suggests they tend to be large in size, enriched in nested repeats, and mutation intolerant. The relevance of these genomic features is intriguing yet poorly understood. In this study, we investigated the feature landscape of these gene groups to discover structural themes useful in interpreting their function, developmental patterns, and evolutionary history. ASD, DevReg, CNS, housekeeping, and whole genome control (WGC) groups were compiled using various resources. Multiple gene features of interest were extracted from NCBI/UCSC Bioinformatics. Residual variation intolerance scores, Exome Aggregation Consortium pLI scores, and copy number variation data from Decipher were used to estimate variation intolerance. Gene age and protein-protein interactions (PPI) were estimated using Ensembl and EBI Intact databases, respectively. Compared to WGC: ASD, DevReg, and CNS genes are longer, produce larger proteins, maintain greater numbers/density of conserved noncoding elements and transposable elements, produce more transcript variants, and are comparatively variation intolerant. After controlling for gene size, mutation tolerance, and clinical association, ASD genes still retain many of these same features. In addition, we also found that ASD genes that are extremely mutation intolerant have larger PPI networks. These data support many of the recent findings within the field of autism genetics but also expand our understanding of the evolution of these broad gene groups, their potential regulatory complexity, and the extent to which they interact with the cellular network. Autism Res 2019, 12: 860-869. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism risk genes are more ancient compared to other genes in the genome. As such, they exhibit physical features related to their age, including long gene and protein size and regulatory sequences that help to control gene expression. They share many of these same features with other genes that are expressed in the brain and/or are associated with prenatal development. En ligne : https://dx.doi.org/10.1002/aur.2112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment / Lisa GOLDS in Development and Psychopathology, 32-1 (February 2020)
[article]
Titre : Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment Type de document : Texte imprimé et/ou numérique Auteurs : Lisa GOLDS, Auteur ; Karina DE KRUIFF, Auteur ; Angus MACBETH, Auteur Article en page(s) : p.357-381 Langues : Anglais (eng) Mots-clés : Gene x Environment attachment disorganization genes Index. décimale : PER Périodiques Résumé : The role of genetics in relation to attachment is of continued interest to developmental psychology. Recent research has attempted to disentangle genetic main effects, environmental effects, and gene and environment (G x E) interactions in the development of attachment security/insecurity and disorganization. We systematically reviewed associations between gene markers and attachment, including G x E interactions, identifying 27 eligible studies. Inconsistent results emerged for associations between both gene effects and G x E interactions on attachment organization. Where G x E interactions used attachment as the environmental factor in the interaction, we observed more consistent results for differential susceptibility of G x E interactions on offspring behavior. Small sample size and heterogeneity in measurement of environmental factors impacted on comparability of studies. From these results, we propose that the future of research into the role of genetic effects in attachment lies in further exploration of G x E interactions, particularly where attachment acts as an environmental factor impacting on other child developmental outcomes emerging from the caregiving environment, consistent with differential susceptibility approaches to developmental psychopathology. In addition, from a methodological perspective, establishing the role of gene markers in such models will require a shift toward contemporary genomics, including genome-wide analysis (including novel genes and chromosomal loci), and epigenetic individual variations. En ligne : http://dx.doi.org/10.1017/s0954579419000142 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416
in Development and Psychopathology > 32-1 (February 2020) . - p.357-381[article] Disentangling genes, attachment, and environment: A systematic review of the developmental psychopathology literature on gene-environment interactions and attachment [Texte imprimé et/ou numérique] / Lisa GOLDS, Auteur ; Karina DE KRUIFF, Auteur ; Angus MACBETH, Auteur . - p.357-381.
Langues : Anglais (eng)
in Development and Psychopathology > 32-1 (February 2020) . - p.357-381
Mots-clés : Gene x Environment attachment disorganization genes Index. décimale : PER Périodiques Résumé : The role of genetics in relation to attachment is of continued interest to developmental psychology. Recent research has attempted to disentangle genetic main effects, environmental effects, and gene and environment (G x E) interactions in the development of attachment security/insecurity and disorganization. We systematically reviewed associations between gene markers and attachment, including G x E interactions, identifying 27 eligible studies. Inconsistent results emerged for associations between both gene effects and G x E interactions on attachment organization. Where G x E interactions used attachment as the environmental factor in the interaction, we observed more consistent results for differential susceptibility of G x E interactions on offspring behavior. Small sample size and heterogeneity in measurement of environmental factors impacted on comparability of studies. From these results, we propose that the future of research into the role of genetic effects in attachment lies in further exploration of G x E interactions, particularly where attachment acts as an environmental factor impacting on other child developmental outcomes emerging from the caregiving environment, consistent with differential susceptibility approaches to developmental psychopathology. In addition, from a methodological perspective, establishing the role of gene markers in such models will require a shift toward contemporary genomics, including genome-wide analysis (including novel genes and chromosomal loci), and epigenetic individual variations. En ligne : http://dx.doi.org/10.1017/s0954579419000142 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416 Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder / Philip R. BALDWIN in Autism Research, 9-5 (May 2016)
[article]
Titre : Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Philip R. BALDWIN, Auteur ; Kaylah N. CURTIS, Auteur ; Michelle A. PATRIQUIN, Auteur ; Varina WOLF, Auteur ; Humsini VISWANATH, Auteur ; Chad SHAW, Auteur ; Yasunari SAKAI, Auteur ; Ramiro SALAS, Auteur Article en page(s) : p.553-562 Langues : Anglais (eng) Mots-clés : autism brain connectivity genes genetic data mining neuroimaging resting state restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpretation of the data. Thus, there is a need to develop systematic genetic data mining processes that facilitate efficient analysis of large datasets. We report a new genetic data mining system, ProcessGeneLists and integrated a list of ASD-related genes with currently available resources in gene expression and functional connectivity of the human brain. Our data-mining program successfully identified three primary regions of interest (ROIs) in the mouse brain: inferior colliculus, ventral posterior complex of the thalamus (VPC), and parafascicular nucleus (PFn). To understand its pathogenic relevance in ASD, we examined the resting state functional connectivity (RSFC) of the homologous ROIs in human brain with other brain regions that were previously implicated in the neuro-psychiatric features of ASD. Among them, the RSFC of the VPC with the medial frontal gyrus (MFG) was significantly more anticorrelated, whereas the RSFC of the PN with the globus pallidus was significantly increased in children with ASD compared with healthy children. Moreover, greater values of RSFC between VPC and MFG were correlated with severity index and repetitive behaviors in children with ASD. No significant RSFC differences were detected in adults with ASD. Together, these data demonstrate the utility of our data-mining program through identifying the aberrant connectivity of thalamo-cortical circuits in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1559 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289
in Autism Research > 9-5 (May 2016) . - p.553-562[article] Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder [Texte imprimé et/ou numérique] / Philip R. BALDWIN, Auteur ; Kaylah N. CURTIS, Auteur ; Michelle A. PATRIQUIN, Auteur ; Varina WOLF, Auteur ; Humsini VISWANATH, Auteur ; Chad SHAW, Auteur ; Yasunari SAKAI, Auteur ; Ramiro SALAS, Auteur . - p.553-562.
Langues : Anglais (eng)
in Autism Research > 9-5 (May 2016) . - p.553-562
Mots-clés : autism brain connectivity genes genetic data mining neuroimaging resting state restricted and repetitive behaviors Index. décimale : PER Périodiques Résumé : Exome sequencing and copy number variation analyses continue to provide novel insight to the biological bases of autism spectrum disorder (ASD). The growing speed at which massive genetic data are produced causes serious lags in analysis and interpretation of the data. Thus, there is a need to develop systematic genetic data mining processes that facilitate efficient analysis of large datasets. We report a new genetic data mining system, ProcessGeneLists and integrated a list of ASD-related genes with currently available resources in gene expression and functional connectivity of the human brain. Our data-mining program successfully identified three primary regions of interest (ROIs) in the mouse brain: inferior colliculus, ventral posterior complex of the thalamus (VPC), and parafascicular nucleus (PFn). To understand its pathogenic relevance in ASD, we examined the resting state functional connectivity (RSFC) of the homologous ROIs in human brain with other brain regions that were previously implicated in the neuro-psychiatric features of ASD. Among them, the RSFC of the VPC with the medial frontal gyrus (MFG) was significantly more anticorrelated, whereas the RSFC of the PN with the globus pallidus was significantly increased in children with ASD compared with healthy children. Moreover, greater values of RSFC between VPC and MFG were correlated with severity index and repetitive behaviors in children with ASD. No significant RSFC differences were detected in adults with ASD. Together, these data demonstrate the utility of our data-mining program through identifying the aberrant connectivity of thalamo-cortical circuits in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1559 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289 Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems / Pura BALLESTER-NAVARRO in Research in Autism Spectrum Disorders, 81 (March 2021)
[article]
Titre : Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems Type de document : Texte imprimé et/ou numérique Auteurs : Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur Article en page(s) : 101715 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Sleep problems genes Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18?41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440
in Research in Autism Spectrum Disorders > 81 (March 2021) . - 101715[article] Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems [Texte imprimé et/ou numérique] / Pura BALLESTER-NAVARRO, Auteur ; María José MARTÍNEZ-MADRID, Auteur ; Auxiliadora JAVALOYES-SANCHÍS, Auteur ; César BELDA-CANTÓ, Auteur ; Víctor AGUILAR, Auteur ; María-del-Mar INDA, Auteur ; Amanda L. RICHDALE, Auteur ; Javier MURIEL, Auteur ; Domingo MORALES, Auteur ; Ana M. PEIRÓ, Auteur . - 101715.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 81 (March 2021) . - 101715
Mots-clés : Autism spectrum disorder Sleep problems genes Ambulatory circadian monitoring Index. décimale : PER Périodiques Résumé : Background People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role. Method Our aim was to analyze the influence of genetic variants PER1, ASMT, NPAS2, and MTNR1A by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n = 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring. Results In autistic cases (age 18?41years), PER1 rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype. Conclusions Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles. En ligne : https://doi.org/10.1016/j.rasd.2020.101715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 Vers une théorie clinique intégrée des désordres de la constellation autistique / Bruno GEPNER in Développements, 10 (Décembre 2011)
[article]
Titre : Vers une théorie clinique intégrée des désordres de la constellation autistique Type de document : Texte imprimé et/ou numérique Auteurs : Bruno GEPNER, Auteur Année de publication : 2011 Article en page(s) : p.5-36 Langues : Français (fre) Mots-clés : autisme gènes environnement synapse connectivité fonctionnelle synchronisation neuronale désordres du traitement temporo-spatial (DTTS) malvoyance de l'émotion ralentissement des flux sensoriels réhabilitation Index. décimale : PER Périodiques Résumé : Nous plaidons dans cet article pour une approche multidimensionnelle, pluri-théorique et intégrée des désordres de la constellation autistique, qui confronte et combine des données issues de plusieurs champs de connaissance - clinique vie entière, génétique, neurosciences cognitives, psychopathologie développementale et et psychodynamique - pour en proposer une vision à la fois unifiée et respectueuse de leur diversité et complexité.
Des mutations, ou anomalies du nombre de copies, de nombreux gènes impliqués dans le développement et le fonctionnement du système nerveux central, ainsi que des altérations du développement et du fonctionnement cérébral provoquées par différents facteurs vulnérants - anoxiques, infectieux et auto-immunitaires, chimiques, toxiques, hormonaux...), ou encore l'impact de ces derniers sur l'expression et le fonctionnement desdits gènes (facteurs épigénétiques), provoquent in fine des désordres du dialogue entre les neurones, sous la forme de déficits ou excès de connectivité et synchronisation spatio-temporelle entre de multiples territoires cérébraux. Ces derniers se traduisent à leur tour par des désordres du traitement spatio-temporel des informations environnementales, physiques et biologiques, faisant apparaître le monde à la fois comme trop rapide et trop fragmenté (détaillé) aux personnes autistes, générant chez elles un ensemble de déficits perceptifs, imitatifs, cognitifs et socio-communicatifs, et de compensations voire surcompensations perceptives et cognitives.
L'efficacité de cette approche théorico-clinique intégrée est mesurable à l'aune des bénéfices que certaines personnes autistes pourraient retirer du ralentissement des informations en provenance de leur environnement.Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155
in Développements > 10 (Décembre 2011) . - p.5-36[article] Vers une théorie clinique intégrée des désordres de la constellation autistique [Texte imprimé et/ou numérique] / Bruno GEPNER, Auteur . - 2011 . - p.5-36.
Langues : Français (fre)
in Développements > 10 (Décembre 2011) . - p.5-36
Mots-clés : autisme gènes environnement synapse connectivité fonctionnelle synchronisation neuronale désordres du traitement temporo-spatial (DTTS) malvoyance de l'émotion ralentissement des flux sensoriels réhabilitation Index. décimale : PER Périodiques Résumé : Nous plaidons dans cet article pour une approche multidimensionnelle, pluri-théorique et intégrée des désordres de la constellation autistique, qui confronte et combine des données issues de plusieurs champs de connaissance - clinique vie entière, génétique, neurosciences cognitives, psychopathologie développementale et et psychodynamique - pour en proposer une vision à la fois unifiée et respectueuse de leur diversité et complexité.
Des mutations, ou anomalies du nombre de copies, de nombreux gènes impliqués dans le développement et le fonctionnement du système nerveux central, ainsi que des altérations du développement et du fonctionnement cérébral provoquées par différents facteurs vulnérants - anoxiques, infectieux et auto-immunitaires, chimiques, toxiques, hormonaux...), ou encore l'impact de ces derniers sur l'expression et le fonctionnement desdits gènes (facteurs épigénétiques), provoquent in fine des désordres du dialogue entre les neurones, sous la forme de déficits ou excès de connectivité et synchronisation spatio-temporelle entre de multiples territoires cérébraux. Ces derniers se traduisent à leur tour par des désordres du traitement spatio-temporel des informations environnementales, physiques et biologiques, faisant apparaître le monde à la fois comme trop rapide et trop fragmenté (détaillé) aux personnes autistes, générant chez elles un ensemble de déficits perceptifs, imitatifs, cognitifs et socio-communicatifs, et de compensations voire surcompensations perceptives et cognitives.
L'efficacité de cette approche théorico-clinique intégrée est mesurable à l'aune des bénéfices que certaines personnes autistes pourraient retirer du ralentissement des informations en provenance de leur environnement.Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 Suicidal ideation during adolescence: The roles of aggregate genetic liability for suicide attempts and negative life events in the past year / Séverine LANNOY in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)
PermalinkThe Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis / Pierre L. ROUBERTOUX
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