Double homeobox protein 4 like 1 (pseudogene) (DUX4L1)

DUX4L1 (Double homeobox protein 4 like 1) is a pseudogene located on chromosome 4q35.2, within a D4Z4 repeat array in the subtelomeric region of chromosome 4[1][10][6]. DUX4L1 is also referred to by aliases such as DUX4 and DUX10 and is related to the DUX4 gene, which encodes a DNA-binding transcription factor involved in the pathophysiology of facioscapulohumeral muscular dystrophy (FSHD)[1][10][4]. However, DUX4L1 itself is classified as a pseudogene or non-coding RNA—there is no robust evidence for active transcription from this locus or for production of a functional protein in vivo[1][10]. Some RT-PCR and in vitro experiments indicate possible transcription of paralogs in certain genetic backgrounds, but DUX4L1 itself appears non-functional as a protein-coding gene[1][10]. Because of this, DUX4L1 is not considered a therapeutic target, and there are no known drugs, mechanisms of action, or established biomarker roles directly associated with DUX4L1[1][6][10]. However, mapping and epigenetic changes around the D4Z4/DUX family repeats, including DUX4L1, are used in research to understand FSHD and selected cancer types such as Ewing's sarcoma, rhabdomyosarcoma, and acute lymphocytic leukemia[1]. Note: DUX4 (not DUX4L1) is a transcription factor with established biological roles and therapeutic interest in FSHD and some cancers[4][7]. Be cautious not to conflate DUX4 (the protein-coding target) with DUX4L1 (the pseudogene)[1][10].

Other names

DUX4DUX10Double homeobox protein 4-like protein 1