FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.

ABSTRACT: FBRSL1-associated syndrome is a rare congenital malformation and intellectual disability syndrome caused by heterozygous truncating variants in Fibrosin-Like 1 (FBRSL1). While FBRSL1 is known to be involved in embryonic development, its precise molecular function remains poorly understood. Therefore, the aim of this study was to elucidate the molecular function of FBRSL1, which is thought to be essential for developmental processes, and to investigate the effect of patient-derived truncating FBRSL1 variants. Using chromatin immunoprecipitation followed by sequencing (ChIP-Seq), we show that FBRSL1 regulates the expression of epigenetic regulators. We demonstrate that FBRSL1 associates with the transcription factor Yin Yang 1 (YY1) and binds upstream of Bromodomain And PHD Finger containing

SUBMITTER: Kastens G 

PROVIDER: S-EPMC12449339 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature