Human DUX4 visualisation

Description

DUX4 is a double homeobox transcription factor, critical in the regulation of repetitive DNA segments during embryogenesis and in the adult male testes. Its expression is silenced in all other tissues. It is composed of two homeodomains within the same protein, named HD1 and HD2. Due to a likely mutation of arginine to glutamate, HD1 binds to a TAAT motif, and HD2 binds to a TGAT motif. Incorrect regulation of DUX4 can be greatly detrimental, as its under expression can lead to myogenesis issues, its over expression can lead to Facioscapulohumeral muscular dystrophy (FSHD) and its aberrant expression can cause B cell leukemia. The molecular tour begins with the big picture, then focuses in on the two homeodomains, a useful DNA loop and how FSHD can arise in overexpression of DUX4. References: Lee, J, Bosnakovski, D, Toso, E, Orellana, K, Kyba, M, Aihara, H, 2018 'Crystal structure of the double homeodomain of DUX4 in complex with DNA' *Cell reports* Vol 21, pp2955-2962