ArticlePloS one2013
Insights on the functional impact of microRNAs present in autism-associated copy number variants.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 79 citations in OpenAlex.
- Integrative analysis of miRNA expression profiles reveals distinct and common molecular mechanisms underlying broad diagnostic groups of severe mental disorders.Molecular psychiatry · 2025Article
- MicroRNAs as Regulators, Biomarkers, and Therapeutic Targets in Autism Spectrum Disorder.Molecular neurobiology · 2025Review
- Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.Frontiers in pharmacology · 2024Review
- TLDc Domain-Containing Genes in Autism Spectrum Disorder: New Players in the Oxidative Stress Response.International journal of molecular sciences · 2023Article
- Differences in the intraspecies copy number variation of Arabidopsis thaliana conserved and nonconserved miRNA genes.Functional & integrative genomics · 2023Article
- Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.BMC psychiatry · 2023Article
- Decoding microRNAs in autism spectrum disorder.Molecular therapy. Nucleic acids · 2022Review
- Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.Frontiers in genetics · 2022Article
- MicroRNA Expression Profiles in Autism Spectrum Disorder: Role for miR-181 in Immunomodulation.Journal of personalized medicine · 2021Article
- The Potential Role of miRNAs as Predictive Biomarkers in Neurodevelopmental Disorders.Journal of molecular neuroscience : MN · 2021Review
- Dysregulation of post-transcriptional modification by copy number variable microRNAs in schizophrenia with enhanced glycation stress.Translational psychiatry · 2021Article
- Saliva MicroRNA Differentiates Children With Autism From Peers With Typical and Atypical Development.Journal of the American Academy of Child and Adolescent Psychiatry · 2020Article
- MicroRNA-138 Overexpression Alters Aβ42 Levels and Behavior in Wildtype Mice.Frontiers in neuroscience · 2020Article
- Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia.Translational psychiatry · 2019Article
- Preeclamptic placentae release factors that damage neurons: implications for foetal programming of disease.Neuronal signaling · 2018Article
- Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus.BMC genetics · 2018Article
- Random walks on mutual microRNA-target gene interaction network improve the prediction of disease-associated microRNAs.BMC bioinformatics · 2017Article
- The putative role of environmental aluminium in the development of chronic neuropathology in adults and children. How strong is the evidence and what could be the mechanisms involved?Metabolic brain disease · 2017Review
- Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Frontiers in genetics · 2017Article
- MicroRNAs in Neurocognitive Dysfunctions: New Molecular Targets for Pharmacological Treatments?Current neuropharmacology · 2017Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder is a complex neurodevelopmental disorder that appears during the first three years of infancy and lasts throughout a person's life. Recently a large category of genomic structural variants, denoted as copy number variants (CNVs), were established to be a major contributor of the pathophysiology of autism. To date almost all studies have focussed only on the genes present in the CNV loci, but the impact of non-coding regulatory microRNAs (miRNAs) present in these regions remain largely unexplored. Hence we attempted to elucidate the biological and functional significance of miRNAs present in autism-associated CNV loci and their target genes by using a series of computational tools. We demonstrate that nearly 11% of the CNV loci harbor miRNAs and a few of these miRNAs were previously reported to be associated with autism. A systematic analysis of the CNV-miRNAs based on their interactions with the target genes enabled the identification of top 10 miRNAs namely hsa-miR-590-3p, hsa-miR-944, hsa-miR-570, hsa-miR-34a, hsa-miR-124, hsa-miR-548f, hsa-miR-429, hsa-miR-200b, hsa-miR-195 and hsa-miR-497 as hub molecules. Further, the CNV-miRNAs formed a regulatory loop with transcription factors and their downstream target genes, and annotation of these target genes indicated their functional involvement in neurodevelopment and synapse. Moreover, miRNAs present in deleted and duplicated CNV loci may explain the difference in dosage of the crucial genes controlled by them. These CNV-miRNAs can also impair the global processing and biogenesis of all miRNAs by targeting key molecules in the miRNA pathway. To our knowledge, this is the first report to highlight the significance of CNV-microRNAs and their target genes to contribute towards the genetic heterogeneity and phenotypic variability of autism.
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