Literature DB >> 32209454

Resolving the Synaptic versus Developmental Dichotomy of Autism Risk Genes.

Whitney E Heavner1, Stephen E P Smith2.   

Abstract

Genes that are mutated in Autism Spectrum Disorders (ASD) can be classified broadly as either synaptic or developmental. But what if this is a false distinction? A recent spate of publications has provided evidence for developmental mechanisms that rely on neural activity for proper cortical development. Conversely, a growing body of evidence indicates a role for developmental mechanisms, particularly chromatin remodeling, during learning or in response to neural activity. Here, we review these recent publications and propose a model in which genes that confer ASD risk operate in signal transduction networks critical for both cortical development and synaptic homeostasis.
Copyright © 2020 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  E/I balance; autism; chromatin; cortical development; genetics; genomics; neural activity; neuron migration; precision medicine; sensory integration; signal transduction; synapse

Year:  2020        PMID: 32209454      PMCID: PMC7101276          DOI: 10.1016/j.tins.2020.01.009

Source DB:  PubMed          Journal:  Trends Neurosci        ISSN: 0166-2236            Impact factor:   13.837


  120 in total

1.  SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution.

Authors:  Yann Loe-Mie; Aude-Marie Lepagnol-Bestel; Gilles Maussion; Adi Doron-Faigenboim; Sandrine Imbeaud; Hervé Delacroix; Lawrence Aggerbeck; Tal Pupko; Philip Gorwood; Michel Simonneau; Jean-Marie Moalic
Journal:  Hum Mol Genet       Date:  2010-05-10       Impact factor: 6.150

2.  A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes.

Authors:  S Bultman; T Gebuhr; D Yee; C La Mantia; J Nicholson; A Gilliam; F Randazzo; D Metzger; P Chambon; G Crabtree; T Magnuson
Journal:  Mol Cell       Date:  2000-12       Impact factor: 17.970

Review 3.  Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.

Authors:  Kimberly M Huber; Eric Klann; Mauro Costa-Mattioli; R Suzanne Zukin
Journal:  J Neurosci       Date:  2015-10-14       Impact factor: 6.167

4.  Synaptic activity induces input-specific rearrangements in a targeted synaptic protein interaction network.

Authors:  Jonathan D Lautz; Emily A Brown; Alison A Williams VanSchoiack; Stephen E P Smith
Journal:  J Neurochem       Date:  2018-09       Impact factor: 5.372

5.  Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

Authors:  Joon-Yong An; Kevin Lin; Lingxue Zhu; Donna M Werling; Shan Dong; Harrison Brand; Harold Z Wang; Xuefang Zhao; Grace B Schwartz; Ryan L Collins; Benjamin B Currall; Claudia Dastmalchi; Jeanselle Dea; Clif Duhn; Michael C Gilson; Lambertus Klei; Lindsay Liang; Eirene Markenscoff-Papadimitriou; Sirisha Pochareddy; Nadav Ahituv; Joseph D Buxbaum; Hilary Coon; Mark J Daly; Young Shin Kim; Gabor T Marth; Benjamin M Neale; Aaron R Quinlan; John L Rubenstein; Nenad Sestan; Matthew W State; A Jeremy Willsey; Michael E Talkowski; Bernie Devlin; Kathryn Roeder; Stephan J Sanders
Journal:  Science       Date:  2018-12-14       Impact factor: 47.728

6.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors:  Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

7.  Mutations causing syndromic autism define an axis of synaptic pathophysiology.

Authors:  Benjamin D Auerbach; Emily K Osterweil; Mark F Bear
Journal:  Nature       Date:  2011-11-23       Impact factor: 49.962

8.  Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior.

Authors:  Eui-Man Jung; Jeffrey Jay Moffat; Jinxu Liu; Shashank Manohar Dravid; Channabasavaiah Basavaraju Gurumurthy; Woo-Yang Kim
Journal:  Nat Neurosci       Date:  2017-11-06       Impact factor: 24.884

9.  Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.

Authors:  Eriene A Youssef; Elizabeth Berry-Kravis; Christian Czech; Randi J Hagerman; David Hessl; Chin Y Wong; Michael Rabbia; Dennis Deptula; Amy John; Russell Kinch; Philip Drewitt; Lothar Lindemann; Moritz Marcinowski; Rachel Langland; Carsten Horn; Paulo Fontoura; Luca Santarelli; Jorge A Quiroz
Journal:  Neuropsychopharmacology       Date:  2017-08-17       Impact factor: 7.853

10.  Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons.

Authors:  Minhan Ka; Divyan A Chopra; Shashank M Dravid; Woo-Yang Kim
Journal:  J Neurosci       Date:  2016-03-02       Impact factor: 6.167

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  13 in total

1.  Shank3 Deficiency is Associated With Altered Profile of Neurotransmission Markers in Pups and Adult Mice.

Authors:  Stanislava Bukatova; Emese Renczes; Alexandra Reichova; Johan Filo; Anna Sadlonova; Boris Mravec; Daniela Ostatnikova; Jan Bakos; Zuzana Bacova
Journal:  Neurochem Res       Date:  2021-08-28       Impact factor: 3.996

2.  Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.

Authors:  Norio Ozaki; Jonathan Sebat; Hiroki Kimura; Masahiro Nakatochi; Branko Aleksic; James Guevara; Miho Toyama; Yu Hayashi; Hidekazu Kato; Itaru Kushima; Mako Morikawa; Kanako Ishizuka; Takashi Okada; Yoshinori Tsurusaki; Atsushi Fujita; Noriko Miyake; Tomoo Ogi; Atsushi Takata; Naomichi Matsumoto; Joseph Buxbaum
Journal:  Transl Psychiatry       Date:  2022-07-11       Impact factor: 7.989

3.  Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.

Authors:  Martine W Tremblay; Matthew V Green; Benjamin M Goldstein; Andrew I Aldridge; Jill A Rosenfeld; Haley Streff; Wendy D Tan; William Craigen; Nasim Bekheirnia; Saeed Al Tala; Anne E West; Yong-Hui Jiang
Journal:  Hum Mol Genet       Date:  2022-05-04       Impact factor: 5.121

4.  Reorganization of postmitotic neuronal chromatin accessibility for maturation of serotonergic identity.

Authors:  Xinrui L Zhang; William C Spencer; Nobuko Tabuchi; Meagan M Kitt; Evan S Deneris
Journal:  Elife       Date:  2022-04-26       Impact factor: 8.713

Review 5.  Autistic-like traits in laboratory rodents exposed to phthalic acid esters during early development - an animal model of autism?

Authors:  M Morová; L Kršková
Journal:  Physiol Res       Date:  2021-05-12       Impact factor: 1.881

6.  Conditional knockout of MET receptor tyrosine kinase in cortical excitatory neurons leads to enhanced learning and memory in young adult mice but early cognitive decline in older adult mice.

Authors:  Baomei Xia; Jing Wei; Xiaokuang Ma; Antoine Nehme; Katerina Liong; Yuehua Cui; Chang Chen; Amelia Gallitano; Deveroux Ferguson; Shenfeng Qiu
Journal:  Neurobiol Learn Mem       Date:  2021-01-29       Impact factor: 2.877

Review 7.  The Emergence of Network Activity Patterns in the Somatosensory Cortex - An Early Window to Autism Spectrum Disorders.

Authors:  Andrew F Iannone; Natalia V De Marco García
Journal:  Neuroscience       Date:  2021-04-19       Impact factor: 3.708

8.  Remodeling of the Homer-Shank interactome mediates homeostatic plasticity.

Authors:  Whitney E Heavner; Jonathan D Lautz; Haley E Speed; Edward P Gniffke; Karen B Immendorf; John P Welsh; Nathan A Baertsch; Stephen E P Smith
Journal:  Sci Signal       Date:  2021-05-04       Impact factor: 9.517

9.  Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.

Authors:  Li Dai; Robert B Weiss; Diane M Dunn; Anna Ramirez; Sharan Paul; Julie R Korenberg
Journal:  Hum Mol Genet       Date:  2021-04-30       Impact factor: 6.150

10.  VLDL-specific increases of fatty acids in autism spectrum disorder correlate with social interaction.

Authors:  Noriyoshi Usui; Keiko Iwata; Taishi Miyachi; Shu Takagai; Keisuke Wakusawa; Takahiro Nara; Kenji J Tsuchiya; Kaori Matsumoto; Daisuke Kurita; Yosuke Kameno; Tomoyasu Wakuda; Kiyokazu Takebayashi; Yasuhide Iwata; Toru Fujioka; Takaharu Hirai; Manabu Toyoshima; Tetsuo Ohnishi; Tomoko Toyota; Motoko Maekawa; Takeo Yoshikawa; Masato Maekawa; Kazuhiko Nakamura; Masatsugu Tsujii; Toshiro Sugiyama; Norio Mori; Hideo Matsuzaki
Journal:  EBioMedicine       Date:  2020-07-30       Impact factor: 8.143

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