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Review
. 2025:75:391-410.
doi: 10.1007/978-3-031-91459-1_14.

Lysine Acetyltransferase 6 Complexes in Neurodevelopmental Disorders and Different Types of Cancer

Affiliations
Review

Lysine Acetyltransferase 6 Complexes in Neurodevelopmental Disorders and Different Types of Cancer

Negar Mousavi et al. Results Probl Cell Differ. 2025.

Abstract

Lysine acetylation is a critical post-translational modification that regulates gene expression and cellular functions. The MYST family lysine acetyltransferases KAT6A (also known as MOZ and MYST3) and KAT6B (a.k.a. MORF and MYST4), in complex with the multivalent epigenetic regulator BRPF1, play key roles in hematopoietic and neural development. Dysregulation of these complexes is implicated in neurodevelopmental disorders, such as Genitopatellar and Say-Barber-Biesecker-Young-Simpson syndromes, as well as in various cancers, including leukemia and medulloblastoma. The evolutionary conservation of these complexes in Drosophila melanogaster and Caenorhabditis elegans underscores their fundamental biological significance. Understanding the structural and functional mechanisms of KAT6-BRPF1 complexes provides insight into their pathological roles and therapeutic potential.

Keywords: Acylation; Cancer; ClinVar variant; Germline mutation; Histone acetylation; Neurodevelopmental disorder; Somatic mutation.

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References

    1. Aiello G, Ballabio C, Ruggeri R, Fagnocchi L, Anderle M, Morassut I, Caron D, Garilli F, Gianno F, Giangaspero F (2019) Truncated BRPF1 cooperates with smoothened to promote adult Shh medulloblastoma. Cell Rep 29(4036–4052):e4010
    1. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F (2015) De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet 96:498–506 - PubMed - PMC - DOI
    1. Baell JB, Leaver DJ, Hermans SJ, Kelly GL, Brennan MS, Downer NL, Nguyen N, Wichmann J, McRae HM, Yang Y (2018) Inhibitors of histone acetyltransferases KAT6A/B induce senescence and arrest tumour growth. Nature 560:253–257 - PubMed - DOI
    1. Barman S, Roy A, Bardhan I, Kandasamy T, Shivani S, Sudhamalla B (2021) Insights into the molecular mechanisms of histone code recognition by the BRPF3 bromodomain. Chemist Asian J 16:3404–3412 - DOI
    1. Barman S, Roy A, Padhan J, Sudhamalla B (2022) Molecular insights into the recognition of acetylated histone modifications by the BRPF2 bromodomain. Biochemistry 61:1774–1789 - PubMed - DOI

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