{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:42:01Z","timestamp":1772138521223,"version":"3.50.1"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"16","license":[{"start":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T00:00:00Z","timestamp":1720742400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ERA-Net for Research on Rare Diseases"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN-143330"],"award-info":[{"award-number":["FDN-143330"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>SMCHD1 is an epigenetic regulatory protein known to modulate the targeted repression of large chromatin domains. Diminished SMCHD1 function in muscle fibers causes Facioscapulohumeral Muscular Dystrophy (FSHD2) through derepression of the D4Z4 chromatin domain, an event which permits the aberrant expression of the disease-causing gene DUX4. Given that SMCHD1 plays a broader role in establishing the cellular epigenome, we examined whether loss of SMCHD1 function might affect muscle homeostasis through additional mechanisms. Here we show that acute depletion of SMCHD1 results in a DUX4-independent defect in myoblast proliferation. Genomic and transcriptomic experiments determined that SMCHD1 associates with enhancers of genes controlling cell cycle to activate their expression. Amongst these cell cycle regulatory genes, we identified LAP2 as a key target of SMCHD1 required for the expansion of myoblasts, where the ectopic expression of LAP2 rescues the proliferation defect of SMCHD1-depleted cells. Thus, the epigenetic regulator SMCHD1 can play the role of a transcriptional co-activator for maintaining the expression of genes required for muscle progenitor expansion. This DUX4-independent role for SMCHD1 in myoblasts suggests that the pathology of FSHD2 may be a consequence of defective muscle regeneration in addition to the muscle wasting caused by spurious DUX4 expression.<\/jats:p>","DOI":"10.1093\/nar\/gkae600","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T17:04:29Z","timestamp":1719507869000},"page":"9450-9462","source":"Crossref","is-referenced-by-count":6,"title":["SMCHD1 activates the expression of genes required for the expansion of human myoblasts"],"prefix":"10.1093","volume":"52","author":[{"given":"Matthew Man-Kin","family":"Wong","sequence":"first","affiliation":[{"name":"Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute ; Ottawa , ON\u00a0 K1H 8L6 , Canada"},{"name":"Department of Cellular and Molecular Medicine, University of Ottawa ; Ottawa , ON\u00a0 K1H 8L6 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Hachmer","sequence":"additional","affiliation":[{"name":"Department of Cell and Regenerative Biology, University of Wisconsin ; Madison , WI\u00a0 53705 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ed","family":"Gardner","sequence":"additional","affiliation":[{"name":"Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute ; Ottawa , ON\u00a0 K1H 8L6 , Canada"},{"name":"Department of Cellular and Molecular Medicine, University of Ottawa ; Ottawa , ON\u00a0 K1H 8L6 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Runfola","sequence":"additional","affiliation":[{"name":"Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute , Milano\u00a0 20132 , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Arezza","sequence":"additional","affiliation":[{"name":"Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute ; Ottawa , ON\u00a0 K1H 8L6 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6824-8569","authenticated-orcid":false,"given":"Lynn\u00a0A","family":"Megeney","sequence":"additional","affiliation":[{"name":"Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute ; Ottawa , ON\u00a0 K1H 8L6 , Canada"},{"name":"Department of Cellular and Molecular Medicine, University of Ottawa ; Ottawa , ON\u00a0 K1H 8L6 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Charles\u00a0P","family":"Emerson","sequence":"additional","affiliation":[{"name":"Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Chan Medical School , Worcester , MA\u00a0 01655 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3811-4121","authenticated-orcid":false,"given":"Davide","family":"Gabellini","sequence":"additional","affiliation":[{"name":"Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute , Milano\u00a0 20132 , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-8102","authenticated-orcid":false,"given":"F\u00a0Jeffrey","family":"Dilworth","sequence":"additional","affiliation":[{"name":"Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute ; Ottawa , ON\u00a0 K1H 8L6 , Canada"},{"name":"Department of Cellular and Molecular Medicine, University of Ottawa ; Ottawa , ON\u00a0 K1H 8L6 , Canada"},{"name":"Department of Cell and Regenerative Biology, University of Wisconsin ; Madison , WI\u00a0 53705 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"key":"2024090903565885900_B1","doi-asserted-by":"crossref","first-page":"7629","DOI":"10.1073\/pnas.0409375102","article-title":"An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse","volume":"102","author":"Blewitt","year":"2005","journal-title":"Proc. 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