New pre-print about ZBTB24

Sep 8, 2023 | Publications

Congratulations on the new work “ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats” by Grillo et al. shared on bioRxiv.

 

Read here: https://doi.org/10.1101/2023.08.31.555516

Extract from Figure 1

ChIP-seq analyses showing the distribution of genomic sites occupied by ZBTB24 (183 peaks) in lymphoblastoid cell lines (LCLs) across genomic (left) and functional annotations (right). The functional annotation was based on the chromatin states established in GM12878 LCLs (ChromHMM track from ENCODE/Broad Institute). Predicted binding motif of ZBTB24 was identified using Regulatory Sequence Analysis Tools (RSAT, http://rsat.sb-roscoff.fr/). Distal_int, Distal intergenic; Prom, promoter.

© Grillo et al., BioRxiv, 2023

The unit’s researchers were interested in the function of the ZBTB24 protein, mutations of which cause ICF syndrome, a rare genetic disorder characterised by DNA methylation defects and centromeric instability associated with immunodeficiency and developmental delays. They discovered that ZBTB24 can play multiple roles in the expression of our genome: as an activator of genes involved in development and the immune response, but also as a repressor of the repeated sequences of the centromeres, thereby guaranteeing the integrity of these chromosomal regions. By creating a mouse model of the disease, they show that the ZBTB24 protein occupied these repeated sequences and prevented their expression through the cooperation of an enzyme capable of methylating and silencing these DNA repeats. By showing that this function of ZBTB24 was conserved in humans, these results highlight the key role of ZBTB24 as a regulator of the expression, methylation and stability of DNA.
 
 

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