Study identifies KAT6A as essential for developmental gene expression in neural stem cells
Researchers report that the histone acetyltransferase KAT6A is required for normal expression of developmental control genes in neural stem and progenitor cells, with implications for understanding Arboleda-Tham syndrome.
A study published in PLOS Genetics (4 May 2026) by Anne K. Voss, Samantha Eccles, and colleagues at the Walter and Eliza Hall Institute of Medical Research and affiliated institutions reports that KAT6A — a gene encoding the histone lysine acetyltransferase also known as MOZ or MYST3 — is essential for appropriate expression of developmental control genes in neural stem and progenitor cells.
Heterozygous loss-of-function variants in KAT6A cause Arboleda-Tham syndrome, a rare neurodevelopmental condition characterised by intellectual disability, speech and language delay, and variable dysmorphic features. The study used a mouse model with deletion of both alleles of Kat6a to characterise the developmental consequences, observing defects including anterior homeotic transformation, cleft palate, and interrupted aortic arch — phenotypes consistent with disrupted expression of HOX and other developmental control genes.
The findings illuminate the molecular mechanism through which KAT6A variants produce their developmental effects, showing that the protein acts as a chromatin regulator that facilitates transcription of genes critical for early patterning. For researchers in epigenetics and developmental genetics, the work provides mechanistic insight into a Mendelian syndrome. For genetic counsellors and clinical geneticists, it adds to the understanding of genotype–phenotype relationships in KAT6A-related disorders.
Plain-language version
For patients, families, and general readers. Educational only — not medical advice.
Arboleda-Tham syndrome is a rare genetic condition caused by a fault in a gene called KAT6A. People with this condition often have learning difficulties and delayed speech. A new research study has investigated how the KAT6A gene normally works in brain development in mice, finding that it helps switch on other genes that guide how cells grow and organise during early development. Understanding how KAT6A works at this level may, in future, help researchers think about possible ways to address its effects — though this study is at an early, laboratory stage. This is an educational summary, not medical advice. If anything here raises questions for you, please speak with your GP or a clinical professional.
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Primary source Public Library of Science · 2026-05-04KAT6A is essential for developmental control gene expression in neural stem and progenitor cells