Reprogramming Nuclear Architecture: Just a TAD

In this issue of Cell Stem Cell, Laugsch et al. (2019) Laugsch M. Bartusel M. Alirzayeva H. Karaolidou A. Rehimi R. Crispatzu G. Zentis P. Nikolic M. Bleckwehl T. Kolovos P. et al. Modelling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSC. Cell Stem Cell. 2019; 24 ( this issue) : 736-752 Abstract Full Text Full Text PDF Scopus (1) Google Scholar use direct reprogramming, epigenetics, and chromatin architecture studies to demonstrate that developmental defects observed in a BOFS patient are caused by reduced expression of TFAP2A in neural crest cells due to the spatial separation of the promoter from its neural crest enhancers