{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:38:41Z","timestamp":1772138321620,"version":"3.50.1"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T00:00:00Z","timestamp":1751932800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P50AR065139"],"award-info":[{"award-number":["P50AR065139"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR066248"],"award-info":[{"award-number":["R01AR066248"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The DUX4 transcription factor is briefly expressed in the early embryo and is epigenetically repressed in somatic tissues. Loss of epigenetic repression can result in the aberrant expression of DUX4 in skeletal muscle and can cause facioscapulohumeral dystrophy (FSHD). Multiple factors have been identified as necessary to maintain epigenetic silencing of DUX4 in skeletal muscle, but whether specific sequences at the DUX4 locus are sufficient for initiating epigenetic silencing has not been known. We cloned fragments of the D4Z4 macrosatellite repeat, the DNA region that encompasses the DUX4 retrogene, adjacent to a reporter driven by a constitutive promoter and identified a single fragment sufficient to epigenetically repress reporter gene expression. Previously identified repressors of DUX4 expression\u2014SETDB1, ATF7IP, SIN3A\/B, and LRIF1\u2014were necessary for silencing activity and p38 inhibitors enhanced suppression. These findings identify a key regulatory sequence for D4Z4 epigenetic repression and establish a model system for mechanistic and discovery studies.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf114","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T08:03:29Z","timestamp":1751011409000},"page":"1526-1540","source":"Crossref","is-referenced-by-count":1,"title":["A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing"],"prefix":"10.1093","volume":"34","author":[{"given":"Ellen M","family":"Paatela","sequence":"first","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]},{"name":"Molecular and Cellular Biology Graduate Program, University of Washington , 1705 NE Pacific St, Seattle, WA 98195 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faith G","family":"St. Amant","sequence":"additional","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle C","family":"Hamm","sequence":"additional","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean R","family":"Bennett","sequence":"additional","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taranjit S","family":"Gujral","sequence":"additional","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]},{"name":"Department of Pharmacology, University of Washington , 1959 NE Pacific St, Seattle, WA 98195 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silv\u00e8re M","family":"van der Maarel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center , Einthovenweg 20, Leiden, ZA 2333 ,","place":["The Netherlands"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen J","family":"Tapscott","sequence":"additional","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]},{"name":"Department of Neurology, University of Washington , 1959 NE Pacific St, Seattle, WA 98195 ,","place":["United States"]},{"name":"Clinical Research Division, Fred Hutchinson Cancer Center , 1100 Fairview Ave N, Seattle, WA 98109 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,7,8]]},"reference":[{"key":"2025090406263558900_ref1","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","article-title":"Population-based incidence and prevalence of facioscapulohumeral dystrophy","volume":"83","author":"Deenen","year":"2014","journal-title":"Neurology"},{"key":"2025090406263558900_ref2","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s13311-018-00675-3","article-title":"Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments","volume":"15","author":"Hamel","year":"2018","journal-title":"Neurotherapeutics"},{"key":"2025090406263558900_ref3","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/mus.26717","article-title":"Respiratory muscle weakness in facioscapulohumeral muscular dystrophy","volume":"60","author":"Henke","year":"2019","journal-title":"Muscle 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