Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedur...

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Autores principales:	Maurizio Marrale, Nadia Ninfa Albanese, Francesco Calì, Valentino Romano
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8f9a3730d269460fa62200284971f6d6
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spelling	oai:doaj.org-article:8f9a3730d269460fa62200284971f6d62021-11-18T08:26:24ZAssessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.1932-620310.1371/journal.pone.0090947https://doaj.org/article/8f9a3730d269460fa62200284971f6d62014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24667286/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only hsa-mir-4436b-1 and hsa-mir-4436b-2 have not been detected in CNVs from non-autistic subjects as reported in the Database of Genomic Variants. Altogether the results reported in this study represent a first step towards a full understanding of how a dysregulated expression of the 24 miRNAs genes affect neurodevelopment in autism. We also propose that the procedure used in this study can be effectively applied to CNVs/miRNA genes association data in other genomic disorders beyond autism.Maurizio MarraleNadia Ninfa AlbaneseFrancesco CalìValentino RomanoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 3, p e90947 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Maurizio Marrale Nadia Ninfa Albanese Francesco Calì Valentino Romano Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
description	Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only hsa-mir-4436b-1 and hsa-mir-4436b-2 have not been detected in CNVs from non-autistic subjects as reported in the Database of Genomic Variants. Altogether the results reported in this study represent a first step towards a full understanding of how a dysregulated expression of the 24 miRNAs genes affect neurodevelopment in autism. We also propose that the procedure used in this study can be effectively applied to CNVs/miRNA genes association data in other genomic disorders beyond autism.
format	article
author	Maurizio Marrale Nadia Ninfa Albanese Francesco Calì Valentino Romano
author_facet	Maurizio Marrale Nadia Ninfa Albanese Francesco Calì Valentino Romano
author_sort	Maurizio Marrale
title	Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
title_short	Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
title_full	Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
title_fullStr	Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
title_full_unstemmed	Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
title_sort	assessing the impact of copy number variants on mirna genes in autism by monte carlo simulation.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/8f9a3730d269460fa62200284971f6d6
work_keys_str_mv	AT mauriziomarrale assessingtheimpactofcopynumbervariantsonmirnagenesinautismbymontecarlosimulation AT nadianinfaalbanese assessingtheimpactofcopynumbervariantsonmirnagenesinautismbymontecarlosimulation AT francescocali assessingtheimpactofcopynumbervariantsonmirnagenesinautismbymontecarlosimulation AT valentinoromano assessingtheimpactofcopynumbervariantsonmirnagenesinautismbymontecarlosimulation
_version_	1718421816973721600

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

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