Molecular genetics of facioscapulohumeral muscular dystrophy
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Cited by (43)
Treatment and Management of Muscular Dystrophies
2021, Neuromuscular Disorders: Treatment and ManagementBilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences
2020, Journal of Shoulder and Elbow SurgeryDUX4 Suppresses MHC Class I to Promote Cancer Immune Evasion and Resistance to Checkpoint Blockade
2019, Developmental CellCitation Excerpt :First, DUX4 is a multicopy gene that lies within the D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4q (Gabriëls et al., 1999; Lee et al., 1995). The repetitive nature of DUX4’s genomic locus and its highly variable copy number in the human population (Wijmenga et al., 1993) render it difficult to study, possibly hindering its prior identification as a cancer-specific gene. The continued development of experimental and computational techniques for querying repetitive genomic loci may facilitate the identification of additional genes like DUX4 that play unexpected roles in cancer.
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation
2018, Neuromuscular DisordersCitation Excerpt :Healthy individuals carry EcoRI fragments larger than 38 kb (11–110 D4Z4 units), whereas FSHD1 patients carry fragments that are smaller than 35 kb (≤8 D4Z4 units) [5,14]. 9–10 D4Z4 units are considered borderline and have been detected in both normal and affected individuals [3,10,14–18]. Approximately, 10%–30% of FSHD1 cases are caused by de novo mutations and in about half of the de novo cases, with respect to number of repeats observed, there is somatic mosaicism [5,19].
A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy
2016, Neuromuscular DisordersCitation Excerpt :D4Z4 units were initially considered non-coding DNA regions, having a regulatory role on the formation and/or maintenance of 4q telomeric heterochromatin [55,56]. D4Z4 units have a high content of highly methylated GC-dinucleotides, as well as two dispersed repeat elements (LSau and hhspm3), characteristic of heterochromatic, non-expressed regions of the human genome [57]. The possibility that this region contains a functional gene was largely discounted because DUX4, the only recognizable ORF at each D4Z4 unit, had no evident introns or polyadenylation signals, suggesting that it represented a pseudogene [41].
Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012
2013, Revue Neurologique