Facioscapulohumeral dystrophy (FSHD) is caused by the loss of repression at the D4Z4 macrosatellite repeats on chromosome 4. This leads to aberrant expression of the homeobox transcription factor DUX4, which causes both an altered gene expression program in skeletal muscle and muscle fiber cell death. While some progress has been made towards understanding myogenic signals driving DUX4 expression, the factors involved in the transcriptional activation of DUX4 are still largely unknown. To understand the mechanisms of DUX4 regulation in the context of the disease locus, we characterized the effects of DUX4 downregulation using chemically modified antisense oligonucleotides (ASOs) and CRISPR sgRNAs that impact putative therapeutic targets in FSHD skeletal muscle models.

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