Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD
Xiangduo Kong, Nam Viet Nguyen, Yumeng Li, Jasmine Sakr, Katherine Williams, Sheila Sharifi, Jonathan Chau, Altay Bayrakci, Seiya Mizuno, Satoru Takahashi, Tohru Kiyono, Rabi Tawil, Ali Mortazavi, Kyoko Yokomori
The paper uses engineered human myoblasts to show that D4Z4 heterochromatin disruption and DUX4 network activation are key in FSHD.
bioRxiv · Oct 14, 2022 · PreprintGenetics