Regular ArticleThe FSHD-Associated Repeat, D4Z4, Is a Member of a Dispersed Family of Homeobox-Containing Repeats, Subsets of Which Are Clustered on the Short Arms of the Acrocentric Chromosomes
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The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy
2022, Biochimica et Biophysica Acta - Molecular Basis of DiseaseControl of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer
2021, Trends in Molecular MedicineDesigned U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes
2021, Molecular Therapy Nucleic AcidsCitation Excerpt :When expressed in muscles, the DUX4 protein is toxic and activates genes associated with cell death, oxidative stress, impaired muscle differentiation, double-stranded RNA activation, immune responses, and atrophy.7–20 Potentially hundreds of DUX4 copies exist in the human genome, embedded within tandemly arrayed repetitive elements called D4Z4 repeats.21,22 Although each DUX4 copy could be transcribed, only one—located within the terminal D4Z4 repeat on the chromosome 4q35 subtelomere—is translated into toxic DUX4 protein in FSHD muscle.5
Epigenetics and Epigenomics in Human Health and Disease
2016, Medical and Health Genomics
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