A copy of the DUX4 retrogene is located in each repeat unit of the D4Z4 macrosatellite repeat that typically consists of 8–100 units. DUX4 is a double homeobox transcription factor that is expressed in the luminal cells of the testis but not in somatic cells due to repeat-mediated epigenetic repression. Patients with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression that is caused by contraction of the D4Z4 repeat to 1–10 units (FSHD1) or by mutations in genes that maintain the chromatin structure of the D4Z4 repeat in a repressive state (FSHD2).

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