Double Homeobox Protein 2 (DUX2)

The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX2, resides within these 3.3-kb repeated elements .

Using PCR amplification of genomic DNA with primers from HEFT1, a genomic sequence identified as a DNA-binding target of HLTF (SMARCA3), Ding et al. (1998) cloned DUX2. The deduced 80-amino acid protein shares 70% amino acid identity with DUX1, but the DUX2 sequence stops just after the first homeodomain.

Ding et al. (1998) determined that the HEFT1 sequence, which presents a consensus GC and TATAA box, and DUX1 sequences were not associated in the genome; however, DUX2 was found carrying a promoter identical to HEFT1.