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FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35. Epigenetic derepression permits the distal\u2010most D4Z4 unit to transcribe\n                    <jats:italic>DUX4<\/jats:italic>\n                    , with transcripts stabilised by splicing to a poly(A) signal on permissive 4qA haplotypes. The pioneer transcription factor DUX4 activates target genes that are proposed to drive FSHD pathology. While this toxic gain\u2010of\u2010function model is a satisfying \u201cbottom\u2010up\u201d genotype\u2010to\u2010phenotype link, DUX4 is rarely detectable in muscle and DUX4 target gene expression is inconsistent in patients. A reliable biomarker for FSHD is suppression of a target gene score of PAX7, a master regulator of myogenesis. However, it is unclear how this \u201ctop\u2010down\u201d finding links to genomic changes that characterise FSHD and to DUX4. Here, we explore the roles and interactions of DUX4 and PAX7 in FSHD pathology and how the relationship between these two transcription factors deepens understanding via the immune system and muscle regeneration. Considering how FSHD pathomechanisms are represented by \u201cDUX4opathy\u201d models has implications for developing therapies and current clinical trials.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202013695","type":"journal-article","created":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T04:15:16Z","timestamp":1624248916000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":67,"title":["Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4373-7657","authenticated-orcid":false,"given":"Christopher R S","family":"Banerji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9562-3072","authenticated-orcid":false,"given":"Peter S","family":"Zammit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,21]]},"reference":[{"key":"BFEMMM202013695_CR1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0007482","volume":"4","author":"E Ansseau","year":"2009","unstructured":"AnsseauE, Laoudj\u2010ChenivesseD, MarcowyczA, TassinA, VanderplanckC, SauvageS, BarroM, MahieuI, LeroyA, LeclercqIet\u00a0al (2009) DUX4c is up\u2010regulated in FSHD. 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