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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.

Linde F BouwmanBianca den HamerElwin P VerveerLente J S LerinkYvonne D KromSilvère M van der MaarelJessica C de Greef
Published in: Skeletal muscle (2020)
Our data demonstrates that loss of Dnmt3b results in derepression of DUX4 in lymphoid tissues and mESCs but not in myogenic cells of D4Z4-2.5/Dnmt3bMommeD14 mice. In addition, the Smchd1MommeD1 variant seems to have a more potent role in DUX4 derepression. Our studies suggest that the immune system is particularly but differentially sensitive to D4Z4 chromatin modifiers which may provide a molecular basis for the yet underexplored immune involvement in FSHD.
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