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DC7: Defining the molecular consequences of haploinsufficiency in CEBP and p300 histone acetyltransferases underpinning the Rubinstein-Taybi syndrome- NENCKI

DC7 – (NENCKI) will aim to define the molecular consequences of the loss of one of the copies of CEBP and p300 histone acetyltransferases. Likewise, based on the mechanistic data we will obtain, we aim to suggest potential clinical intervention strategies to address RT syndrome. 

Using CRISPR-Cas9, DC7 will establish a panel of heterozygous human-induced pluripotent stem cell lines (iPS) which lack one of the copes of p300 or CBP. DC7 will next generate neural progenitors and neurons and astrocytes from these lines along with the heterozygous controls. At NENCKI, the project will aim to determine the impact of the loss of CBP and p300 on chromatin structure and gene activity using Hi-C, ATAC-seq, ChIP-seq, and RNA seq. By integrating this data, the project will determine a list of genes and possible pathways that could constitute relevant intervention points for the possible design of the future therapies.

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