Abstract
Organismal development is a process that requires a fine-tuned control of cell fate and identity, through timely regulation of lineage-specific genes. These processes are mediated by the concerted action of transcription factors and protein complexes that orchestrate the interaction between cis-regulatory elements (enhancers, promoters) and RNA Polymerase II to elicit transcription. A proper understanding of these dynamics is essential to elucidate the mechanisms underlying developmental diseases. Many developmental disorders, such as Coffin-Siris Syndrome, characterized by growth impairment and intellectual disability are associated with mutations in subunits of the SWI/SNF chromatin remodeler complex, which is an essential regulator of transcription. ARID1B and its paralog ARID1A encode for the two largest, mutually exclusive, subunits of the complex. Mutations in ARID1A and, especially, ARID1B are recurrently associated with a very wide array of developmental disorders, suggesting that these two SWI/SNF subunits play an important role in cell fate decision. In this mini-review we therefore discuss the available scientific literature linking ARID1A and ARID1B to cell fate determination, pluripotency maintenance, and organismal development.
Highlights
The SWI/SNF ComplexThe SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complex leverages an ATP-dependent mechanism to modify the structure of the chromatin and modulate its accessibility to transcriptional regulators (Figure 1)
Mammalian SWI/SNF complexes are assembled from subunits encoded by 29 genes, including multiple paralogs, which generate an extensive diversity in composition
The study demonstrated that homozygous deletion of ARID1A in human embryonic stem cells (ESCs) results in spontaneous neuronal differentiation due to increased expression of several genes associated with neurodevelopment
Summary
The SWI/SNF ComplexThe SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complex leverages an ATP-dependent mechanism to modify the structure of the chromatin and modulate its accessibility to transcriptional regulators (Figure 1). The study demonstrated that homozygous deletion of ARID1A in human ESCs results in spontaneous neuronal differentiation due to increased expression of several genes associated with neurodevelopment.
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