{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:38:36Z","timestamp":1790257116202,"version":"4.1.0"},"reference-count":106,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T00:00:00Z","timestamp":1569888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Structural maintenance of chromosomes flexible hinge domain-containing l (SMCHDl) is an architectural factor critical for X chromosome inactivation (XCI). In mice, loss of all Smchdl causes female-specific embryonic lethality due to an XCI defect. However...<\/jats:p><jats:p>Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is an architectural factor critical for X-chromosome inactivation (XCI) and the repression of select autosomal gene clusters. In mice, homozygous nonsense mutations in Smchd1 cause female-specific embryonic lethality due to an XCI defect. However, although human mutations in SMCHD1 are associated with congenital arhinia and facioscapulohumeral muscular dystrophy type 2 (FSHD2), the diseases do not show a sex-specific bias, despite the essential nature of XCI in humans. To investigate whether there is a dosage imbalance for the sex chromosomes, we here analyze transcriptomic data from arhinia and FSHD2 patient blood and muscle cells. We find that X-linked dosage compensation is maintained in these patients. In mice, SMCHD1 controls not only protocadherin (Pcdh) gene clusters, but also Hox genes critical for craniofacial development. Ablating Smchd1 results in aberrant expression of these genes, coinciding with altered chromatin states and three-dimensional (3D) topological organization. In a subset of FSHD2 and arhinia patients, we also found dysregulation of clustered PCDH, but not HOX genes. Overall, our study demonstrates preservation of XCI in arhinia and FSHD2, and implicates SMCHD1 in the regulation of the 3D organization of select autosomal gene clusters.<\/jats:p>","DOI":"10.1534\/genetics.119.302600","type":"journal-article","created":{"date-parts":[[2019,8,17]],"date-time":"2019-08-17T01:35:17Z","timestamp":1566005717000},"page":"685-703","source":"Crossref","is-referenced-by-count":5,"title":["Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans"],"prefix":"10.1093","volume":"213","author":[{"given":"Chen-Yu","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Molecular Biology , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"Department of Genetics , Harvard Medical School, Boston, Massachusetts 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harrison","family":"Brand","sequence":"additional","affiliation":[{"name":"Department of Neurology , Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114"},{"name":"Program in Medical and Population Genetics , Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"},{"name":"Center for Mendelian Genomics , Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"},{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie D","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Medicine , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"National Institute of Environmental Health Sciences , Research Triangle Park, North Carolina 27709"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Talkowski","sequence":"additional","affiliation":[{"name":"Department of Neurology , Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114"},{"name":"Program in Medical and Population Genetics , Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"},{"name":"Center for Mendelian Genomics , Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"},{"name":"Center for Human Genetic Research , Massachusetts General Hospital, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannie T","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , Massachusetts General Hospital, Boston, Massachusetts 02114"},{"name":"Department of Genetics , Harvard Medical School, Boston, Massachusetts 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,10,1]]},"reference":[{"key":"2023031005254390600_","doi-asserted-by":"publisher","first-page":"R106","DOI":"10.1186\/gb-2010-11-10-r106","article-title":"Differential expression analysis for sequence count data.","volume":"11","author":"Anders","year":"2010","journal-title":"Genome Biol."},{"key":"2023031005254390600_","doi-asserted-by":"publisher","DOI":"10.1126\/science.1234167","article-title":"A switch between topological domains underlies HoxD genes collinearity in mouse limbs.","volume":"340","author":"Andrey","year":"2013","journal-title":"Science"},{"key":"2023031005254390600_","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1016\/j.tig.2016.03.007","article-title":"Escape artists of the X chromosome.","volume":"32","author":"Balaton","year":"2016","journal-title":"Trends Genet."},{"key":"2023031005254390600_","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/s13293-015-0053-7","article-title":"Derivation of consensus inactivation status for X-linked genes from genome-wide studies.","volume":"6","author":"Balaton","year":"2015","journal-title":"Biol. 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