ArticleHuman molecular genetics2019
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Three decades of neuroscience research using animal models of ADHD and ASD: a bibliometric analysis.Frontiers in psychiatry · 2025Pooled it
- The Inversion in(2L)t Impacts Complex, Temperature-Sensitive Behaviors inEcology and evolution · 2026Article
- Insertion of rare autism variants in synaptic genes induce novel behavioral phenotypes inbioRxiv : the preprint server for biology · 2025Article
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- Blue light stimulated-autofluorescence green flash of lysosome-related organelles in the intestinal cells of nematodes.G3 (Bethesda, Md.) · 2025Article
- Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories.Genetics · 2025Article
- Functional Testing of Human Disease Missense Variants inKidney international reports · 2025Article
- The inversion In(2L)t impacts complex, environmentally sensitive behaviors inbioRxiv : the preprint server for biology · 2025Article
- Blue light stimulated-autofluorescence green flash of lysosome-related organelles in the intestinal cells of nematodes.bioRxiv : the preprint server for biology · 2025Article
- Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories.bioRxiv : the preprint server for biology · 2025Article
- Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.American journal of medical genetics. Part A · 2025Article
- Autism risk variants inmicroPublication biology · 2025Article
- Conserved autism-associated genes tune social feeding behavior in C. elegans.Nature communications · 2024Article
- The complex etiology of autism spectrum disorder due to missense mutations of CHD8.Molecular psychiatry · 2024Article
- Article
- Strategies for dissecting the complexity of neurodevelopmental disorders.Trends in genetics : TIG · 2024Review
- Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder.Scientific reports · 2024Article
- Antioxidants, Hormetic Nutrition, and Autism.Current neuropharmacology · 2024Review
- Matching variants for functional characterization of genetic variants.G3 (Bethesda, Md.) · 2023Article
- Conserved autism-associated genes tune social feeding behavior inbioRxiv : the preprint server for biology · 2023Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Autism spectrum disorder (ASD) involves thousands of alleles in over 850 genes, but the current functional inference tools are not sufficient to predict phenotypic changes. As a result, the causal relationship of most of these genetic variants in the pathogenesis of ASD has not yet been demonstrated and an experimental method prioritizing missense alleles for further intensive analysis is crucial. For this purpose, we have designed a pipeline that uses Caenorhabditis elegans as a genetic model to screen for phenotype-changing missense alleles inferred from human ASD studies. We identified highly conserved human ASD-associated missense variants in their C. elegans orthologs, used a CRISPR/Cas9-mediated homology-directed knock-in strategy to generate missense mutants and analyzed their impact on behaviors and development via several broad-spectrum assays. All tested missense alleles were predicted to perturb protein function, but we found only 70% of them showed detectable phenotypic changes in morphology, locomotion or fecundity. Our findings indicate that certain missense variants in the C. elegans orthologs of human CACNA1D, CHD7, CHD8, CUL3, DLG4, GLRA2, NAA15, PTEN, SYNGAP1 and TPH2 impact neurodevelopment and movement functions, elevating these genes as candidates for future study into ASD. Our approach will help prioritize functionally important missense variants for detailed studies in vertebrate models and human cells.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.