SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2
Eden Engal, Aveksha Sharma, Uria Aviel, Nadeen Taqatqa, Sarah Juster, Shiri Jaffe‐Herman, Mercedes Bentata, Ophir Geminder, Adi Gershon, Reyut Lewis, Gillian Kay, Merav Hecht, Silvina Epsztejn‐Litman, Marc Gotkine, Vincent Mouly, , Yotam Drier
This study shows SMCHD1 loss causes DUX4 expression in FSHD2 by disrupting splicing of DNMT3B, leading to hypomethylation and muscle abnormalities.
Science Advances · May 29, 2024Peer-reviewedGenomics