Kwartler et al. show that α-smooth muscle actin functions in the nucleus by associating with chromatin remodeling complexes and the promoters of smooth muscle-specific genes, but this nuclear activity is reduced in ACTA2 p.Arg179 pathogenic variants, resulting in impaired smooth muscle differentiation and increased plasticity.
- Callie S. Kwartler
- Albert J. Pedroza
- Dianna M. Milewicz