Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.

ABSTRACT: Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCOR), a Polycomb repressive complex 1 factor mutated in various cancers, is involved in photoreceptor degenerative diseases. Using proteomics and transcription assays, we report that BCOR interacts with the transcription factors CRX and OTX2 and reduces their ability to activate the promoters of photoreceptor-specific genes. CUT&RUN sequencing further shows that BCOR shares genome-wide binding profiles with CRX/OTX2, consistent with a general co-repression activity. We also identify missense mutations in human BCOR in five families that ha

SUBMITTER: Langouet M 

PROVIDER: S-EPMC9451151 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature