ArticleMolecular psychiatry2016
Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder.
Article in Molecular psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer.Molecular autism · 2019Pooled it
- Neurodevelopmental and Neurologic Manifestations ofNeurology. Genetics · 2025Review
- Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.NPJ genomic medicine · 2025Article
- Altered projection-specific synaptic remodeling and its modification by oxytocin in an idiopathic autism marmoset model.Communications biology · 2024Article
- A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children WithGastro hep advances · 2024Article
- Article
- Cell-Type-Specific Neuroproteomics of Synapses.Biomolecules · 2023Review
- Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models.Scientific reports · 2023Article
- Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity.Molecular autism · 2021Article
- Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes.NPJ genomic medicine · 2021Article
- Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.Nature communications · 2021Article
- A randomized double-blind controlled trial of everolimus in individuals withContemporary clinical trials communications · 2021Article
- SLC6A20 transporter: a novel regulator of brain glycine homeostasis and NMDAR function.EMBO molecular medicine · 2021Article
- Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.Molecular autism · 2021Article
- DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.Cell reports · 2020Article
- Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior.Translational psychiatry · 2020Article
- An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.American journal of human genetics · 2020Article
- Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation.Molecular autism · 2020Article
- PTEN in Hereditary and Sporadic Cancer.Cold Spring Harbor perspectives in medicine · 2020Review
- A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.Nature neuroscience · 2020Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a clear, but heterogeneous, genetic component. Germline mutations in the tumor suppressor Pten are a well-established risk factor for ASD with macrocephaly, and conditional Pten mouse models have impaired social behavior and brain development. Some mutations observed in patients disrupt the normally balanced nuclear-cytoplasmic localization of the Pten protein, and we developed the Pten(m3m4) model to study the effects of a cytoplasm-predominant Pten. In this model, germline mislocalization of Pten causes inappropriate social behavior with intact learning and memory, a profile reminiscent of high-functioning ASD. These animals also exhibit histological evidence of neuroinflammation and expansion of glial populations by 6 weeks of age. We hypothesized that the neural transcriptome of this model would be altered in a manner that could inform human idiopathic ASD, a constitutional condition. Using total RNA sequencing, we found progressive disruption of neural gene expression in Pten(m3m4) mice from 2-6 weeks of age, involving both immune and synaptic pathways. These alterations include downregulation of many highly coexpressed human ASD-susceptibility genes. Comparison with a human cortical development coexpression network revealed that genes disrupted in Pten(m3m4) mice were enriched in the same areas as those of human ASD. Although Pten-related ASD is relatively uncommon, our observations suggest that the Pten(m3m4) model recapitulates multiple molecular features of human ASD, and that Pten operates far upstream of common pathways within ASD pathogenesis.
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