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autism gene network

John G Conboy
The Rbfox genes encode an ancient family of sequence-specific RNA binding proteins (RBPs) that are critical developmental regulators in multiple tissues including skeletal muscle, cardiac muscle, and brain. The hallmark of Rbfox proteins is a single high-affinity RRM domain, highly conserved from insects to humans, that binds preferentially to UGCAUG motifs at diverse regulatory sites in pre-mRNA introns, mRNA 3'UTRs, and pre-miRNAs hairpin structures. Versatile regulatory circuits operate on Rbfox pre-mRNA and mRNA to ensure proper expression of Rbfox1 protein isoforms, which then act on the broader transcriptome to regulate alternative splicing networks, mRNA stability and translation, and microRNA processing...
October 17, 2016: Wiley Interdisciplinary Reviews. RNA
Giovanni Provenzano, Zelia Corradi, Katia Monsorno, Tarcisio Fedrizzi, Laura Ricceri, Maria L Scattoni, Yuri Bozzi
Autism spectrum disorders (ASD) are characterized by a high degree of genetic heterogeneity. Genomic studies identified common pathological processes underlying the heterogeneous clinical manifestations of ASD, and transcriptome analyses revealed that gene networks involved in synapse development, neuronal activity, and immune function are deregulated in ASD. Mouse models provide unique tools to investigate the neurobiological basis of ASD; however, a comprehensive approach to identify transcriptional abnormalities in different ASD models has never been performed...
2016: Frontiers in Neuroscience
Yuanchuan Wang, Hongxiu Zhong, Chonggang Wang, Dongxu Gao, Yulin Zhou, Zhenghong Zuo
Autism spectrum disorder (ASD) is a serious debilitating mental illness with complex symptoms and multi-factorial pathogenesis. Although the pathogenesis of ASD remains unclear, etiology is thought to involve complex, multigenic interactions and possible environmental contributions. In the present study, we used zebrafish (Danio rerio) as a model to investigate whether maternal exposure to the water soluble fraction of crude oil (WSF, 5μg/L), lead (Pb, 20μg/L) and their mixture (5 μg/L WSF+20 μg/L Pb) could induce autism-like behavior in larvae...
August 26, 2016: Ecotoxicology and Environmental Safety
Raili Riikonen
There are no treatments for the core symptoms of autistic spectrum disorder (ASD), but there is now more knowledge on emerging mechanisms and on mechanism-based therapies. In autism there are altered synapses: genes affected are commonly related to synaptic and immune function. Dysregulation of activity-dependent signaling networks may have a key role the etiology of autism. There is an over-activation of IGF-AKT-mTor in autism spectrum disorders. Morphological and electro-physiological defects of the cerebellum are linked to system-wide ASD-like behavior defects...
November 2016: European Journal of Paediatric Neurology: EJPN
Sara Hillenmeyer, Lea K Davis, Eric R Gamazon, Edwin H Cook, Nancy J Cox, Russ B Altman
MOTIVATION: Analyzing genome wide association data in the context of biological pathways helps us understand how genetic variation influences phenotype and increases power to find associations. However, the utility of pathway-based analysis tools is hampered by undercuration and reliance on a distribution of signal across all of the genes in a pathway. Methods that combine genome wide association results with genetic networks to infer the key phenotype-modulating subnetworks combat these issues, but have primarily been limited to network definitions with yes/no labels for gene-gene interactions...
August 19, 2016: Bioinformatics
Daniel S Tylee, Alfred J Espinoza, Jonathan L Hess, Muhammad A Tahir, Sarah Y McCoy, Joshua K Rim, Totadri Dhimal, Ori S Cohen, Stephen J Glatt
Genome-wide expression studies of samples derived from individuals with autism spectrum disorder (ASD) and their unaffected siblings have been widely used to shed light on transcriptomic differences associated with this condition. Females have historically been under-represented in ASD genomic studies. Emerging evidence from studies of structural genetic variants and peripheral biomarkers suggest that sex-differences may exist in the biological correlates of ASD. Relatively few studies have explicitly examined whether sex-differences exist in the transcriptomic signature of ASD...
August 16, 2016: Autism Research: Official Journal of the International Society for Autism Research
Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin, Jonathan Green
BACKGROUND: Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism. METHODS: We analysed data from n = 194 children aged 4-16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires...
2016: Journal of Neurodevelopmental Disorders
Arjun Krishnan, Ran Zhang, Victoria Yao, Chandra L Theesfeld, Aaron K Wong, Alicja Tadych, Natalia Volfovsky, Alan Packer, Alex Lash, Olga G Troyanskaya
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Yet, only a small fraction of potentially causal genes-about 65 genes out of an estimated several hundred-are known with strong genetic evidence from sequencing studies. We developed a complementary machine-learning approach based on a human brain-specific gene network to present a genome-wide prediction of autism risk genes, including hundreds of candidates for which there is minimal or no prior genetic evidence...
August 1, 2016: Nature Neuroscience
Jameson Patak, Jonathan L Hess, Yanli Zhang-James, Stephen J Glatt, Stephen V Faraone
SLC9A9 is a sodium hydrogen exchanger present in the recycling endosome and highly expressed in the brain. It is implicated in neuropsychiatric disorders, including autism spectrum disorders (ASDs). Little research concerning its gene expression patterns and biological pathways has been conducted. We sought to investigate its possible biological roles in autism-associated brain regions throughout development. We conducted a weighted gene co-expression network analysis on RNA-seq data downloaded from Brainspan...
July 21, 2016: Autism Research: Official Journal of the International Society for Autism Research
Katherine D Blizinsky, Blanca Diaz-Castro, Marc P Forrest, Britta Schürmann, Anthony P Bach, Maria Dolores Martin-de-Saavedra, Lei Wang, John G Csernansky, Jubao Duan, Peter Penzes
The architecture of dendritic arbors contributes to neuronal connectivity in the brain. Conversely, abnormalities in dendrites have been reported in multiple mental disorders and are thought to contribute to pathogenesis. Rare copy number variations (CNVs) are genetic alterations that are associated with a wide range of mental disorders and are highly penetrant. The 16p11.2 microduplication is one of the CNVs most strongly associated with schizophrenia and autism, spanning multiple genes possibly involved in synaptic neurotransmission...
July 26, 2016: Proceedings of the National Academy of Sciences of the United States of America
James H Notwell, Whitney E Heavner, Siavash Fazel Darbandi, Sol Katzman, William L McKenna, Christian F Ortiz-Londono, David Tastad, Matthew J Eckler, John L R Rubenstein, Susan K McConnell, Bin Chen, Gill Bejerano
Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including TBR1, a master regulator of cortical development. We performed ChIP-seq for TBR1 during mouse cortical neurogenesis and show that TBR1-bound regions are enriched adjacent to ASD genes. ASD genes were also enriched among genes that are differentially expressed in Tbr1 knockouts, which together with the ChIP-seq data, suggests direct transcriptional regulation...
August 2016: Genome Research
Ji-Yun Huang, Yun Tian, Hui-Juan Wang, Hong Shen, Huan Wang, Sen Long, Mei-Hua Liao, Zhi-Rong Liu, Ze-Ming Wang, Dan Li, Rong-Rong Tao, Tian-Tian Cui, Shigeki Moriguchi, Kohji Fukunaga, Feng Han, Ying-Mei Lu
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that display complicated behavioral symptoms. METHODS: Using gene expressing profiling and the weighted gene co-expression network analysis (WGCNA), we studied genes coregulated by similar factors such as genetic variants or environmental effects in the hippocampus in an animal model of autism. RESULTS: From microarray data, we identified 21,388 robustly expressed genes of which 721 genes were found to be differently expressed in the valproic acid-treated group compared to the control group...
October 2016: CNS Neuroscience & Therapeutics
Joon Yong An, Charles Claudianos
The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD...
September 2016: Neuroscience and Biobehavioral Reviews
Stefano Berto, Noriyoshi Usui, Genevieve Konopka, Brent L Fogel
The role of post-transcriptional gene regulation in human brain development and neurodevelopmental disorders remains mostly uncharacterized. ELAV-like RNA-binding proteins are a family of proteins that regulate several aspects of neuronal function including neuronal excitability and synaptic transmission, both critical to the normal function of the brain in cognition and behavior. Here, we identify the downstream neuronal transcriptional and splicing networks of ELAVL2, an RNA-binding protein with previously unknown function in the brain...
June 3, 2016: Human Molecular Genetics
Fading Chen, Jacqueline T Moran, Yihui Zhang, Kristin M Ates, Diankun Yu, Laura A Schrader, Partha M Das, Frank E Jones, Benjamin J Hall
KEY POINTS: Synaptic excitation and inhibition must be properly balanced in individual neurons and neuronal networks to allow proper brain function. Disrupting this balance may lead to autism spectral disorders and epilepsy. We show the basic helix-loop-helix transcription factor NeuroD2 promotes inhibitory synaptic drive but also decreases cell-intrinsic neuronal excitability of cortical pyramidal neurons both in vitro and in vivo. We identify two genes potentially downstream of NeuroD2-mediated transcription that regulate these parameters: gastrin-releasing peptide and the small conductance, calcium-activated potassium channel, SK2...
July 1, 2016: Journal of Physiology
Jishnu Das, Michael J Meyer, Haiyuan Yu
Studying autism genes in the context of the protein complexes to which they belong illustrates the potential of network-centric approaches for understanding complex genetic disease.
November 25, 2015: Cell Systems
Steven D Hicks, Cherry Ignacio, Karen Gentile, Frank A Middleton
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that lacks adequate screening tools, often delaying diagnosis and therapeutic interventions. Despite a substantial genetic component, no single gene variant accounts for >1 % of ASD incidence. Epigenetic mechanisms that include microRNAs (miRNAs) may contribute to the ASD phenotype by altering networks of neurodevelopmental genes. The extracellular availability of miRNAs allows for painless, noninvasive collection from biofluids...
2016: BMC Pediatrics
Melis Inan, Mingrui Zhao, Monica Manuszak, Cansu Karakaya, Anjali M Rajadhyaksha, Virginia M Pickel, Theodore H Schwartz, Peter A Goldstein, Giovanni Manfredi
Parvalbumin-expressing, fast spiking interneurons have high-energy demands, which make them particularly susceptible to energy impairment. Recent evidence suggests a link between mitochondrial dysfunction in fast spiking cortical interneurons and neuropsychiatric disorders. However, the effect of mitochondrial dysfunction restricted to parvalbumin interneurons has not been directly addressed in vivo. To investigate the consequences of mitochondrial dysfunction in parvalbumin interneurons in vivo, we generated conditional knockout mice with a progressive decline in oxidative phosphorylation by deleting cox10 gene selectively in parvalbumin neurons (PV-Cox10 CKO)...
September 2016: Neurobiology of Disease
Eleonora Napoli, Gyu Song, Sarah Wong, Randi Hagerman, Cecilia Giulivi
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder, characterized by tremors, ataxia, impaired coordination, and cognitive decline. While all FXTAS individuals are carriers of a 55-200 CGG expansion at the 5'-UTR of the fragile X mental retardation gene (FMR1), also known as premutation, not all carriers develop FXTAS symptoms and some display other types of psychological/emotional disorders (e.g., autism, anxiety). The goal of this study was to investigate whether the mitochondrial dysfunction previously observed in fibroblasts from older premutation individuals (>60 years) was already present in younger (17-48 years), non-FXTAS-affected carriers and to identify the type and severity of the bioenergetic deficit...
October 2016: Cerebellum
Zhihui Xie, Jing Li, Jonathan Baker, Kathie L Eagleson, Marcelo P Coba, Pat Levitt
BACKGROUND: Atypical synapse development and plasticity are implicated in many neurodevelopmental disorders (NDDs). NDD-associated, high-confidence risk genes have been identified, yet little is known about functional relationships at the level of protein-protein interactions, which are the dominant molecular bases responsible for mediating circuit development. METHODS: Proteomics in three independent developing neocortical synaptosomal preparations identified putative interacting proteins of the ligand-activated MET receptor tyrosine kinase, an autism risk gene that mediates synapse development...
February 26, 2016: Biological Psychiatry
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