Mammalian SWI/SNF (BAF) complex

The SWI/SNF complex, known as the BAF (BRG1/BRM-associated factor) complex in mammals is a chromatin remodeling complex with multiple subunits that regulate gene expression by altering chromatin accessibility and DNA access for transcription factors. BAF complex remodels nucleosomes through ATP hydrolysis mediated by its catalytic subunits BRG1 (SMARCA4) or BRM (SMARCA2).

The BAF complex exists in three subtypes, canonical BAF (cBAF), polybromo-associated BAF (PBAF), and non-canonical BAF (ncBAF), each defined by unique subunit compositions that lead them to have specific biological functions. Mutations, including the loss of function mutations, in specific subunits have been a driving factor in various human diseases, most notably cancer, making BAF complexes integral in current molecular biology and research pertaining to biomedicine.

About 20% of patients with different forms of cancer had mutations in at least one BAF complex member. In particular, these include breast cancers related to mutations in ARID1A/B, PBRM1, and ARID2, endometriosis-associated ovarian cancers caused by mutations in ARID1A, and renal medullary carcinomas characterized by loss of SMARCB1. Additionally, both diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma are subtypes of non-Hodgkin lymphoma originating from germinal center B cells; while DLBCL is the most common, Burkitt lymphoma is the most aggressive and clinically significant. Burkitt lymphoma, in particular, is frequently linked to mutations in ARID1A and SMARCA4.

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