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Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by a triad of behavioural impairments and includes disruption in social behaviour. ASD has a clear genetic underpinning and hundreds of genes are implicated in its aetiology. However, how single penetrant genes disrupt act...

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Autores principales: Rawsthorne, Helena, Calahorro, Fernando, Holden-Dye, Lindy, O’ Connor, Vincent, Dillon, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8158995/
https://www.ncbi.nlm.nih.gov/pubmed/34043629
http://dx.doi.org/10.1371/journal.pone.0243121
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author Rawsthorne, Helena
Calahorro, Fernando
Holden-Dye, Lindy
O’ Connor, Vincent
Dillon, James
author_facet Rawsthorne, Helena
Calahorro, Fernando
Holden-Dye, Lindy
O’ Connor, Vincent
Dillon, James
author_sort Rawsthorne, Helena
collection PubMed
description Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by a triad of behavioural impairments and includes disruption in social behaviour. ASD has a clear genetic underpinning and hundreds of genes are implicated in its aetiology. However, how single penetrant genes disrupt activity of neural circuits which lead to affected behaviours is only beginning to be understood and less is known about how low penetrant genes interact to disrupt emergent behaviours. Investigations are well served by experimental approaches that allow tractable investigation of the underpinning genetic basis of circuits that control behaviours that operate in the biological domains that are neuro-atypical in autism. The model organism C. elegans provides an experimental platform to investigate the effect of genetic mutations on behavioural outputs including those that impact social biology. Here we use progeny-derived social cues that modulate C. elegans food leaving to assay genetic determinants of social behaviour. We used the SAFRI Gene database to identify C. elegans orthologues of human ASD associated genes. We identified a number of mutants that displayed selective deficits in response to progeny. The genetic determinants of this complex social behaviour highlight the important contribution of synaptopathy and implicates genes within cell signalling, epigenetics and phospholipid metabolism functional domains. The approach overlaps with a growing number of studies that investigate potential molecular determinants of autism in C. elegans. However, our use of a complex, sensory integrative, emergent behaviour provides routes to enrich new or underexplored biology with the identification of novel candidate genes with a definable role in social behaviour.
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spelling pubmed-81589952021-06-10 Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour Rawsthorne, Helena Calahorro, Fernando Holden-Dye, Lindy O’ Connor, Vincent Dillon, James PLoS One Research Article Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by a triad of behavioural impairments and includes disruption in social behaviour. ASD has a clear genetic underpinning and hundreds of genes are implicated in its aetiology. However, how single penetrant genes disrupt activity of neural circuits which lead to affected behaviours is only beginning to be understood and less is known about how low penetrant genes interact to disrupt emergent behaviours. Investigations are well served by experimental approaches that allow tractable investigation of the underpinning genetic basis of circuits that control behaviours that operate in the biological domains that are neuro-atypical in autism. The model organism C. elegans provides an experimental platform to investigate the effect of genetic mutations on behavioural outputs including those that impact social biology. Here we use progeny-derived social cues that modulate C. elegans food leaving to assay genetic determinants of social behaviour. We used the SAFRI Gene database to identify C. elegans orthologues of human ASD associated genes. We identified a number of mutants that displayed selective deficits in response to progeny. The genetic determinants of this complex social behaviour highlight the important contribution of synaptopathy and implicates genes within cell signalling, epigenetics and phospholipid metabolism functional domains. The approach overlaps with a growing number of studies that investigate potential molecular determinants of autism in C. elegans. However, our use of a complex, sensory integrative, emergent behaviour provides routes to enrich new or underexplored biology with the identification of novel candidate genes with a definable role in social behaviour. Public Library of Science 2021-05-27 /pmc/articles/PMC8158995/ /pubmed/34043629 http://dx.doi.org/10.1371/journal.pone.0243121 Text en © 2021 Rawsthorne et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Rawsthorne, Helena
Calahorro, Fernando
Holden-Dye, Lindy
O’ Connor, Vincent
Dillon, James
Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title_full Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title_fullStr Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title_full_unstemmed Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title_short Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour
title_sort investigating autism associated genes in c. elegans reveals candidates with a role in social behaviour
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8158995/
https://www.ncbi.nlm.nih.gov/pubmed/34043629
http://dx.doi.org/10.1371/journal.pone.0243121
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