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A Neurodevelopmental Perspective for Autism-Associated Gene Function

Large-scale genetic sequencing studies have identified a wealth of genes in which mutations are associated with autism spectrum disorder (ASD). Understanding the biological function of these genes sheds light onto the neurodevelopmental basis of ASD. To this end, we defined functional categories rep...

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Autores principales: Poquérusse, Jessie, Luikart, Bryan W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017685/
https://www.ncbi.nlm.nih.gov/pubmed/35445171
http://dx.doi.org/10.21926/obm.neurobiol.1702004
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author Poquérusse, Jessie
Luikart, Bryan W.
author_facet Poquérusse, Jessie
Luikart, Bryan W.
author_sort Poquérusse, Jessie
collection PubMed
description Large-scale genetic sequencing studies have identified a wealth of genes in which mutations are associated with autism spectrum disorder (ASD). Understanding the biological function of these genes sheds light onto the neurodevelopmental basis of ASD. To this end, we defined functional categories representing brain development – (1) Cell Division and Survival, (2) Cell Migration and Differentiation, (3) Neuronal Morphological Elaboration, (4) Development and Regulation of Cellular Excitability, and (5) Synapse Formation and Function – and place 100 high confidence ASD-associated genes yielding at least 50 published PubMed articles into these categories based on keyword searches. We compare the categorization of ASD genes to genes associated with developmental delay (DD) and systematically review the published literature on the function of these genes. We find evidence that ASD-associated genes have important functions that span the neurodevelopmental continuum. Further, examining the temporal expression pattern of these genes using the BrainSpan Atlas of the Developing Human Brain supports their function across development. Thus, our analyses and review of literature on ASD gene function support a model whereby differences in brain development – from very early stages of macroarchitectural patterning to late stages of activity-dependent sculpting of synaptic connectivity – may lead to ASD. It will be important to keep investigating potential points of mechanistic convergence which could explain a common pathophysiological basis of ASD behind this disparate array of genes.
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spelling pubmed-90176852022-04-19 A Neurodevelopmental Perspective for Autism-Associated Gene Function Poquérusse, Jessie Luikart, Bryan W. OBM Neurobiol Article Large-scale genetic sequencing studies have identified a wealth of genes in which mutations are associated with autism spectrum disorder (ASD). Understanding the biological function of these genes sheds light onto the neurodevelopmental basis of ASD. To this end, we defined functional categories representing brain development – (1) Cell Division and Survival, (2) Cell Migration and Differentiation, (3) Neuronal Morphological Elaboration, (4) Development and Regulation of Cellular Excitability, and (5) Synapse Formation and Function – and place 100 high confidence ASD-associated genes yielding at least 50 published PubMed articles into these categories based on keyword searches. We compare the categorization of ASD genes to genes associated with developmental delay (DD) and systematically review the published literature on the function of these genes. We find evidence that ASD-associated genes have important functions that span the neurodevelopmental continuum. Further, examining the temporal expression pattern of these genes using the BrainSpan Atlas of the Developing Human Brain supports their function across development. Thus, our analyses and review of literature on ASD gene function support a model whereby differences in brain development – from very early stages of macroarchitectural patterning to late stages of activity-dependent sculpting of synaptic connectivity – may lead to ASD. It will be important to keep investigating potential points of mechanistic convergence which could explain a common pathophysiological basis of ASD behind this disparate array of genes. 2017 2017-04-25 /pmc/articles/PMC9017685/ /pubmed/35445171 http://dx.doi.org/10.21926/obm.neurobiol.1702004 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the conditions of the Creative Commons by Attribution License, which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is correctly cited. http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/)
spellingShingle Article
Poquérusse, Jessie
Luikart, Bryan W.
A Neurodevelopmental Perspective for Autism-Associated Gene Function
title A Neurodevelopmental Perspective for Autism-Associated Gene Function
title_full A Neurodevelopmental Perspective for Autism-Associated Gene Function
title_fullStr A Neurodevelopmental Perspective for Autism-Associated Gene Function
title_full_unstemmed A Neurodevelopmental Perspective for Autism-Associated Gene Function
title_short A Neurodevelopmental Perspective for Autism-Associated Gene Function
title_sort neurodevelopmental perspective for autism-associated gene function
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017685/
https://www.ncbi.nlm.nih.gov/pubmed/35445171
http://dx.doi.org/10.21926/obm.neurobiol.1702004
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