ArticleNucleic acids research2018
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 45 citations in OpenAlex.
- Review
- De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.Nature communications · 2026Article
- Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders.Medicinal research reviews · 2025Review
- In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.JCI insight · 2025Article
- Diversity of clustered protocadherin-α genes in neuronal identity and its role in short-term specific associative memory formation.Scientific reports · 2025Article
- A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.Italian journal of pediatrics · 2025Article
- Inhibition of EHMT1/2 rescues synaptic damage and motor impairment in a PD mouse model.Cellular and molecular life sciences : CMLS · 2024Article
- Epigenetic Regulations in Mammalian Cells: Roles and Profiling Techniques.Molecules and cells · 2023Review
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.Biomedicines · 2022Article
- Review
- Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.Frontiers in cell and developmental biology · 2022Review
- Effect of Tensile Frequency on the Osteogenic Differentiation of Periodontal Ligament Stem Cells.International journal of general medicine · 2022Article
- A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain.Molecular psychiatry · 2021Article
- Article
- Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma.Life science alliance · 2021Article
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas.Brain structure & function · 2020Article
- The phenomenal epigenome in neurodevelopmental disorders.Human molecular genetics · 2020Review
- Article
- Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders.Frontiers in genetics · 2020Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity. Increased H3K9me3 was present already at birth, indicating that aberrant methylation patterns are established during embryogenesis. Interestingly, we found that Ehmt2+/- mice do not present neither the marked increase of H3K9me2/3 nor the cognitive deficits found in Ehmt1+/- mice, indicating an evolutionary diversification of functions. Our finding of increased H3K9me3 in Ehmt1+/- mice is the first one supporting the notion that EHMT1 can quench the deposition of tri-methylation by other Histone methyltransferases, ultimately leading to impaired neurocognitive functioning. Our insights into the epigenetic pathophysiology of Kleefstra syndrome may offer guidance for future developments of therapeutic strategies for this disease.
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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.