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We demonstrate that FBRSL1 associates with the transcription factor Yin Yang 1 (YY1) and binds upstream of <jats:italic>Bromodomain And PHD Finger containing 1<\/jats:italic> (<jats:italic>BRPF1<\/jats:italic>) and <jats:italic>Lysine Acetyltransferase 6\u00a0A<\/jats:italic> (<jats:italic>KAT6A<\/jats:italic>), two epigenetic regulators involved in embryonic development and linked to neurodevelopmental disorders. Furthermore, quantitative real-time PCR analysis revealed that truncating <jats:italic>FBRSL1<\/jats:italic> variants lead to downregulation of <jats:italic>BRPF1<\/jats:italic> and <jats:italic>KAT6A<\/jats:italic> in blood and fibroblasts derived from patients with the <jats:italic>FBRSL1<\/jats:italic>-associated syndrome. Consistently, loss of <jats:italic>Fbrsl1<\/jats:italic> function in <jats:italic>Xenopus laevis<\/jats:italic> embryos, which results in a range of developmental abnormalities, including craniofacial and brain malformations, also leads to defects in the <jats:italic>brpf1<\/jats:italic> and <jats:italic>kat6a<\/jats:italic> expression pattern. In summary, our findings support a function of <jats:italic>FBRSL1<\/jats:italic> in regulating key genes involved in global epigenetic processes and embryonic development. These results provide mechanistic insights how FBRSL1 dysfunction contributes to the pathogenesis of <jats:italic>FBRSL1<\/jats:italic>-associated syndrome.<\/jats:p>","DOI":"10.1007\/s00439-025-02760-y","type":"journal-article","created":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T06:03:57Z","timestamp":1752473037000},"page":"809-826","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A"],"prefix":"10.1007","volume":"144","author":[{"given":"Gina","family":"Kastens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Berger-Santangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Gerstner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Ufartes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Mischak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2524-5384","authenticated-orcid":false,"given":"Annette","family":"Borchers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Pauli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,14]]},"reference":[{"issue":"3","key":"2760_CR1","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.ajhg.2015.01.017","volume":"96","author":"VA Arboleda","year":"2015","unstructured":"Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, Grody WW, Vilain E, Nelson SF (2015) De Novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. 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