GEO series

Effects of loss of KAT6A on histone acetylation and methylation levels, as well as MLL1 and POLR2A occupancy

GSE311724 Mus musculus Genome binding/occupancy profiling by high throughput sequencing 134 samples Submitted 2026/04/20 Platform GPL30172

Summary

Heterozygous variants in the KAT6A gene encoding the histone lysine acetyltransferase KAT6A (MOZ, MYST3) cause Arboleda-Tham syndrome, an intellectual disability syndrome. The profound effects of pathogenic variants in only one allele of KAT6A on cognitive development and functions raises the question what effects heterozygous and homozygous loss of KAT6A may have on gene expression and chromatin modifications, specifically in a neural cell type that is functionally affected by loss of KAT6A. To address this question, we established that murine neural stem and progenitor cells form fewer neurons after loss of one and two alleles of Kat6a and used these cells to conduct automated chromatin profiling. We determined within the same cell preparation acetylation at histone H3 lysines 9, 14 and 23, RNA polymerase II (POLR2A) and MLL1 occupancy, as well as levels of methylation at histone H3 lysine 4 (H3K4), the MLL1 target, and compared these chromatin profiling results to the effects of loss of KAT6A on gene expression.

Published in

KAT6A is essential for developmental control gene expression in neural stem and progenitor cells

Voss AK, Eccles S, Wichmann J et al. · PLoS genetics 2026 · PMID 42081590 · doi:10.1371/journal.pgen.1012133

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Direct links to NCBI, no account and no request form: the whole study as GSE311724_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 134 samples. Raw sequencing reads are also available from ENA.

Whole study · RAW.tar ↓ Series matrix ↓ All supplementary files ↗ Raw reads on ENA ↗

Also filed as BioProject PRJNA1370831 and SRA study SRP649655. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 42081590) ↗

Study design

12 conditions, mostly in triplicate

H3K9ac, Kat6a+/– proliferating NSPCs, ×4 H3K14ac, Kat6a+/– proliferating NSPCs, ×4 H3K23ac, Kat6a+/– proliferating NSPCs, ×4 MLL1, Kat6a+/– proliferating NSPCs, ×4 H3K9ac, Kat6a+/+ proliferating NSPCs, ×3 H3K9ac, Kat6a-/– proliferating NSPCs, ×3 H3K14ac, Kat6a+/+ proliferating NSPCs, ×3 H3K14ac, Kat6a-/– proliferating NSPCs, ×3 +4 more

Supports a between-group comparison across 40 samples.

12 replicated groups read from the first 40 of 134 sample titles; they account for 40 of them. Check it against the sample list below before relying on it.

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