ArticleMolecular psychiatry2017
A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling.
Article in Molecular psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 64 citations in OpenAlex.
- Calcium and CaBrain sciences · 2026Review
- 16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review.Nagoya journal of medical science · 2025Review
- Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.BMC pediatrics · 2024Article
- Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression.Molecular psychiatry · 2024Article
- Fetal Brain-Derived Exosomal miRNAs from Maternal Blood: Potential Diagnostic Biomarkers for Fetal Alcohol Spectrum Disorders (FASDs).International journal of molecular sciences · 2024Article
- Characterization of exosomal microRNAs in preterm infants fed with breast milk and infant formula.Frontiers in nutrition · 2024Article
- Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.Frontiers in cell and developmental biology · 2024Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Genes · 2023Article
- Decoding microRNAs in autism spectrum disorder.Molecular therapy. Nucleic acids · 2022Review
- 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.BMC pregnancy and childbirth · 2022Article
- Article
- AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome.Molecular therapy. Nucleic acids · 2022Article
- Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.International journal of molecular sciences · 2022Review
- Modifying PCDH19 levels affects cortical interneuron migration.Frontiers in neuroscience · 2022Article
- Genome-Wide Methylation Profiling in the Thalamus of Scrapie Sheep.Frontiers in veterinary science · 2022Article
- miR-484: A Potential Biomarker in Health and Disease.Frontiers in oncology · 2022Review
- 16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.Frontiers in psychiatry · 2022Article
- δ-Protocadherins regulate neural progenitor cell division by antagonizing Ryk and Wnt/β-catenin signaling.iScience · 2021Article
- Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome 16p13.11 microduplication is a risk factor associated with various neurodevelopmental disorders such as attention-deficit/hyperactivity disorder, intellectual disabilities, developmental delay and autistic spectrum disorder. The underlying molecular mechanism of this genetic variation remained unknown, but its core genetic locus-conserved across mice and humans-contains seven genes. Here, we generated bacterial artificial chromosome-transgenic mice carrying a human 16p13.11 locus, and these mice showed the behavioral hyperactivity phenotype. We identified miR-484 as the responsible gene using a combination of expression and functional analyses. Mature miR-484 was expressed during active cortical neurogenesis, and overexpression of miR-484 decreased proliferation and increased neural progenitor differentiation in vivo. Luciferase screening identified the 3'-untranslated region of protocadherin-19 (Pcdh19) as a target of miR-484. The effect of miR-484 on neurogenesis was rescued by ectopic PCDH19 expression. These results demonstrate that miR-484 promotes neurogenesis by inhibiting PCDH19. Dysregulation of neurogenesis by imbalanced miR-484/PCDH19 expression contributes to the pathogenesis of 16p13.11 microduplication syndrome.
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