ArticleNeuron2021
A MYT1L syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation.
Article in Neuron, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 69 citations in OpenAlex.
- A Non-Classical Neuroactive Steroid Exhibiting Potent, Efficacious GABAbioRxiv : the preprint server for biology · 2026Article
- Spatially resolved molecular sex differences at single-cell resolution in the adult human ventromedial and arcuate hypothalamus.Cell reports · 2026Article
- Altered Co-Expression Patterns of Mitochondrial NADH-Dehydrogenase Genes in the Prefrontal Cortex of Rodent ADHD Models.International journal of molecular sciences · 2025Article
- Ventral striatal astrocytes contribute to reinforcement learning.bioRxiv : the preprint server for biology · 2025Article
- Neuroprotective effects of vitamin C on hypoxic-ischemic brain injury in neonatal mice.Pediatric research · 2025Article
- A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice.Hormones and behavior · 2025Article
- Requirements for the neurodevelopmental disorder-associated gene ZNF292 in human cortical interneuron development and function.Cell reports · 2025Article
- Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice.Nature communications · 2025Article
- Stimulus-Dependent Expression ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- The gain-of-function UBE3AScientific reports · 2025Article
- Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiology.Stem cell reports · 2025Article
- Chromosomal and gonadal sex have differing effects on social motivation in mice.Biology of sex differences · 2025Article
- Lifespan in rodents with MYT1L heterozygous mutation.Scientific reports · 2025Article
- Integrative mRNA and miRNA Expression Profiles from Developing Zebrafish Head Highlight Brain-Preference Genes and Regulatory Networks.Molecular neurobiology · 2025Article
- Coordinated neuron-specific splicing events restrict nucleosome engagement of the LSD1 histone demethylase complex.Cell reports · 2025Article
- Lifespan in rodents with MYT1L heterozygous mutation.Research square · 2024Article
- Epigenetics and the timing of neuronal differentiation.Current opinion in neurobiology · 2024Review
- MYT1L deficiency impairs excitatory neuron trajectory during cortical development.Nature communications · 2024Article
- Chromosomal and gonadal sex have differing effects on social motivation in mice.bioRxiv : the preprint server for biology · 2024Article
- Simple Behavioral Analysis (SimBA) as a platform for explainable machine learning in behavioral neuroscience.Nature neuroscience · 2024Article
Corrections and comments
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- Erratum issued
Authors and funding
16 authors at 1 institution in 1 country.
Funding
Abstract
Human genetics have defined a new neurodevelopmental syndrome caused by loss-of-function mutations in MYT1L, a transcription factor known for enabling fibroblast-to-neuron conversions. However, how MYT1L mutation causes intellectual disability, autism, ADHD, obesity, and brain anomalies is unknown. Here, we developed a Myt1l haploinsufficient mouse model that develops obesity, white-matter thinning, and microcephaly, mimicking common clinical phenotypes. During brain development we discovered disrupted gene expression, mediated in part by loss of Myt1l gene-target activation, and identified precocious neuronal differentiation as the mechanism for microcephaly. In contrast, in adults we discovered that mutation results in failure of transcriptional and chromatin maturation, echoed in disruptions in baseline physiological properties of neurons. Myt1l haploinsufficiency also results in behavioral anomalies, including hyperactivity, muscle weakness, and social alterations, with more severe phenotypes in males. Overall, our findings provide insight into the mechanistic underpinnings of this disorder and enable future preclinical studies.
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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.