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MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated diso...

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Autores principales: Wong, Anthony, Zhou, Anbo, Cao, Xiaolong, Mahaganapathy, Vaidhyanathan, Azaro, Marco, Gwin, Christine, Wilson, Sherri, Buyske, Steven, Bartlett, Christopher W., Flax, Judy F., Brzustowicz, Linda M., Xing, Jinchuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329941/
https://www.ncbi.nlm.nih.gov/pubmed/35893067
http://dx.doi.org/10.3390/genes13081329
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author Wong, Anthony
Zhou, Anbo
Cao, Xiaolong
Mahaganapathy, Vaidhyanathan
Azaro, Marco
Gwin, Christine
Wilson, Sherri
Buyske, Steven
Bartlett, Christopher W.
Flax, Judy F.
Brzustowicz, Linda M.
Xing, Jinchuan
author_facet Wong, Anthony
Zhou, Anbo
Cao, Xiaolong
Mahaganapathy, Vaidhyanathan
Azaro, Marco
Gwin, Christine
Wilson, Sherri
Buyske, Steven
Bartlett, Christopher W.
Flax, Judy F.
Brzustowicz, Linda M.
Xing, Jinchuan
author_sort Wong, Anthony
collection PubMed
description Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated disorders. Using whole-genome sequencing, we analyzed 272 samples in 73 families in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Families with at least one ASD patient were recruited and were further assessed for language impairment, reading impairment, and other associated phenotypes. A total of 5104 miRNA variants and 1,181,148 3′ untranslated region (3′ UTR) variants were identified in the dataset. After applying several filtering criteria, including population allele frequency, brain expression, miRNA functional regions, and inheritance patterns, we identified high-confidence variants in five brain-expressed miRNAs (targeting 326 genes) and 3′ UTR miRNA target regions of 152 genes. Some genes, such as SCP2 and UCGC, were identified in multiple families. Using Gene Ontology overrepresentation analysis and protein–protein interaction network analysis, we identified clusters of genes and pathways that are important for neurodevelopment. The miRNAs and miRNA target genes identified in this study are potentially involved in neurodevelopmental disorders and should be considered for further functional studies.
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spelling pubmed-93299412022-07-29 MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders Wong, Anthony Zhou, Anbo Cao, Xiaolong Mahaganapathy, Vaidhyanathan Azaro, Marco Gwin, Christine Wilson, Sherri Buyske, Steven Bartlett, Christopher W. Flax, Judy F. Brzustowicz, Linda M. Xing, Jinchuan Genes (Basel) Article Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated disorders. Using whole-genome sequencing, we analyzed 272 samples in 73 families in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Families with at least one ASD patient were recruited and were further assessed for language impairment, reading impairment, and other associated phenotypes. A total of 5104 miRNA variants and 1,181,148 3′ untranslated region (3′ UTR) variants were identified in the dataset. After applying several filtering criteria, including population allele frequency, brain expression, miRNA functional regions, and inheritance patterns, we identified high-confidence variants in five brain-expressed miRNAs (targeting 326 genes) and 3′ UTR miRNA target regions of 152 genes. Some genes, such as SCP2 and UCGC, were identified in multiple families. Using Gene Ontology overrepresentation analysis and protein–protein interaction network analysis, we identified clusters of genes and pathways that are important for neurodevelopment. The miRNAs and miRNA target genes identified in this study are potentially involved in neurodevelopmental disorders and should be considered for further functional studies. MDPI 2022-07-26 /pmc/articles/PMC9329941/ /pubmed/35893067 http://dx.doi.org/10.3390/genes13081329 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Wong, Anthony
Zhou, Anbo
Cao, Xiaolong
Mahaganapathy, Vaidhyanathan
Azaro, Marco
Gwin, Christine
Wilson, Sherri
Buyske, Steven
Bartlett, Christopher W.
Flax, Judy F.
Brzustowicz, Linda M.
Xing, Jinchuan
MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title_full MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title_fullStr MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title_full_unstemmed MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title_short MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders
title_sort microrna and microrna-target variants associated with autism spectrum disorder and related disorders
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329941/
https://www.ncbi.nlm.nih.gov/pubmed/35893067
http://dx.doi.org/10.3390/genes13081329
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