@misc{tapia del fierro_den hamer_jansz_chen_beck_vanyai_benetti_gurzau_daxinger_xue_et al._2021, 
  title={SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease}, 
  DOI={10.1101/2021.05.12.443934}, 
  abstractNote={<jats:p>The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets and at the facioscapulohumeral muscular dystrophy associated macro-array, D4Z4. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeotic transformation in mice. Paradoxically, the mutant SMCHD1 appears to enhance insulation against another epigenetic regulator complex, PRC2, while depleting long range chromatin interactions akin to what is observed in the absence of SMCHD1. These data suggest that SMCHD1′s role in long range chromatin interactions is not directly linked to gene silencing or insulating the chromatin, refining the model for how the different levels of SMCHD1-mediated chromatin regulation interact to bring about gene silencing in normal development and disease.</jats:p>}, 
  publisher={Cold Spring Harbor Laboratory}, 
  author={Tapia del Fierro, Andres and den Hamer, Bianca and Jansz, Natasha and Chen, Kelan and Beck, Tamara and Vanyai, Hannah and Benetti, Natalia and Gurzau, Alexandra D and Daxinger, Lucia and Xue, Shifeng and et al.}, 
  year={2021}, 
  month={May}
  }