Our study puts forward a plausible, genetic model for FSHD. In this model, two polymorphisms create a polyadenylation site for the distal DUX4 transcript, located in the pLAM sequence. In combination with the chromatin relaxation of the repeat, this leads to increased DUX4 transcript levels. FSHD may arise through a toxic gain of function attributable to the stabilized distal DUX4 transcript.
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