ArticleNature genetics2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 43 citations in OpenAlex.
- KAT8-mediated epigenetic modifications: Physiological functions, heterogeneity in disease, and advances in targeted development.iScience · 2026Review
- MSL2 disruption leads to autism-like behaviors, impairs neurogenesis, and alters histone H4K16 acetylation.Cellular and molecular life sciences : CMLS · 2026Article
- Stage-specific epigenetic priming amplifies gene activation during lineage commitment.Science advances · 2026Article
- Article
- Cytogenetic, genomic, and reproductive characterization of four Pura Raza Española Mares carrying a 64, X, del(X), t(X; Y) complex karyotype.Journal of animal science · 2026Article
- Two Chinese patients with Basilicata-Akhtar syndrome caused by novelTranslational pediatrics · 2025Article
- Basic Epigenetic Mechanisms.Sub-cellular biochemistry · 2025Review
- A landscape of X-inactivation during human T cell development.Nature communications · 2024Article
- Set2 and H3K36 regulate the Drosophila male X chromosome in a context-specific manner, independent from MSL complex spreading.Genetics · 2024Article
- Article
- MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.American journal of human genetics · 2024Article
- Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.European journal of human genetics : EJHG · 2024Article
- Set2 and H3K36 regulate thebioRxiv : the preprint server for biology · 2024Article
- Transcriptional regulation by the NSL complex enables diversification of IFT functions in ciliated versus nonciliated cells.Science advances · 2023Article
- H4K16ac activates the transcription of transposable elements and contributes to their cis-regulatory function.Nature structural & molecular biology · 2023Article
- Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.Genes · 2022Article
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
- The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations.PLoS genetics · 2021Review
- Histone H4 lysine 16 acetylation controls central carbon metabolism and diet-induced obesity in mice.Nature communications · 2021Article
- Distinct mechanisms mediate X chromosome dosage compensation inLife science alliance · 2021Article
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Authors and funding
41 authors at 17 institutions in 9 countries.
Funding
Abstract
The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in MSL3, which encodes a member of the chromatin-associated male-specific lethal (MSL) complex responsible for bulk histone H4 lysine 16 acetylation (H4K16ac) in flies and mammals. These variants cause an X-linked syndrome affecting both sexes. Clinical features of the syndrome include global developmental delay, progressive gait disturbance, and recognizable facial dysmorphism. MSL3 mutations affect MSL complex assembly and activity, accompanied by a pronounced loss of H4K16ac levels in vivo. Patient-derived cells display global transcriptome alterations of pathways involved in morphogenesis and cell migration. Finally, we use histone deacetylase inhibitors to rebalance acetylation levels, alleviating some of the molecular and cellular phenotypes of patient cells. Taken together, we characterize a syndrome that allowed us to decipher the developmental importance of MSL3 in humans.
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