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Updated: May 10, 2025

Repressing Gene Transcription by Redirecting Cellular Machinery with Chemical Epigenetic Modifiers
Published on: September 20, 2018
The SWI/SNF PBAF complex facilitates REST occupancy at repressive chromatin
Elena Grossi1, Christie B Nguyen2, Saul Carcamo3
1Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Abstract:
SWI/SNF (switch/sucrose non-fermentable) chromatin remodelers possess unique functionalities difficult to dissect. Distinct cancers harbor mutations in specific subunits, such as the polybromo-associated BAF (PBAF)-specific component ARID2 in melanoma. Here, we perform epigenomic profiling of SWI/SNF complexes and their associated chromatin states in melanocytes and melanoma. Time-resolved approaches reveal that PBAF regions are generally less sensitive to ATPase inhibition than BAF sites. We further uncover a subset of PBAF-exclusive regions within Polycomb-repressed chromatin that are enriched for REST (RE1 silencing transcription factor), a transcription factor that represses neuronal genes. In turn, PBAF complex disruption via ARID2 loss hinders REST's ability to bind and inactivate its targets, leading to upregulation of synaptic transcripts. Remarkably, this gene signature is conserved in melanoma patients with ARID2 mutations and correlates with an expression program enriched in melanoma brain metastases. Overall, we demonstrate a unique role for PBAF in generating accessibility for a silencing transcription factor at repressed chromatin, with important implications for disease.
Insights
The polybromo-associated BAF (PBAF) complex, specifically its ARID2 component, plays a crucial role in regulating gene expression in melanoma. Loss of ARID2 disrupts the silencing of neuronal genes, impacting melanoma progression and brain metastasis.
Area of Science:
- Molecular Biology
- Cancer Genomics
- Epigenetics
Background:
- Switch/sucrose non-fermentable (SWI/SNF) chromatin remodelers are essential for cellular function.
- Mutations in SWI/SNF subunits, like ARID2 in the polybromo-associated BAF (PBAF) complex, are implicated in various cancers, including melanoma.
Purpose of the Study:
- To investigate the specific role of the PBAF complex in melanocytes and melanoma.
- To elucidate the function of ARID2 within the PBAF complex in regulating chromatin accessibility and gene expression.
Main Methods:
- Epigenomic profiling of SWI/SNF complexes and chromatin states.
- Time-resolved analyses of ATPase inhibition sensitivity.
- Investigation of REST transcription factor binding in wild-type and ARID2-deficient cells.
Main Results:
- PBAF regions exhibit distinct sensitivity to ATPase inhibition compared to BAF sites.
- PBAF selectively targets Polycomb-repressed chromatin enriched for the RE1 silencing transcription factor (REST).
- ARID2 loss impairs REST binding, leading to the upregulation of synaptic transcripts, a signature found in ARID2-mutant melanoma and brain metastases.
Conclusions:
- The PBAF complex uniquely facilitates transcription factor access to repressed chromatin.
- ARID2's role in PBAF is critical for repressing neuronal gene expression in melanoma.
- This mechanism has significant implications for understanding melanoma progression and metastasis.
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