{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:32:22Z","timestamp":1790890342605,"version":"4.1.0"},"reference-count":54,"publisher":"The Company of Biologists","issue":"8","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004375","name":"Tel Aviv University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004375","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Sleep disturbances are common among children with neurodevelopmental disorders. Here, we report a syndrome characterized by prenatal microcephaly, intellectual disability and severe disruption of sleep\u2013wake cycles in a consanguineous family. Exome sequencing revealed homozygous variants (c.5224G&amp;gt;A and c.6506G&amp;gt;T) leading to the missense mutations E1742K and G2169V in integrator complex subunit 1 (INTS1), the core subunit of the Integrator complex. Conservation and structural analyses suggest that G2169V has a minor impact on the structure and function of the complex, while E1742K significantly alters a negatively charged conserved patch on the surface of the protein. The severe sleep\u2013wake cycles disruption in human carriers highlights a new aspect of Integrator complex impairment. To further study INTS1 pathogenicity, we generated Ints1-deficient zebrafish lines. Mutant zebrafish larvae displayed abnormal circadian rhythms of locomotor activity and sleep, as is the case with the affected humans. Furthermore, Ints1-deficent larvae exhibited elevated levels of dopamine \u03b2-hydroxylase (dbh) mRNA in the locus coeruleus, a wakefulness-inducing brainstem center. Altogether, these findings suggest a significant, likely indirect, effect of INTS1 and the Integrator complex on maintaining circadian rhythms of locomotor activity and sleep homeostasis across vertebrates.<\/jats:p>","DOI":"10.1242\/dmm.050746","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T07:50:05Z","timestamp":1724745005000},"source":"Crossref","is-referenced-by-count":4,"title":["A deleterious variant of <i>INTS1<\/i> leads to disrupted sleep\u2013wake cycles"],"prefix":"10.1242","volume":"17","author":[{"given":"Shir","family":"Confino","sequence":"first","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Wexler","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adar","family":"Medvetzky","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yotam","family":"Elazary","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohar","family":"Ben-Moshe","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Reiter","sequence":"additional","affiliation":[{"name":"Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem 2 Pediatric Pulmonary & Sleep Unit , , Jerusalem 91120 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talya","family":"Dor","sequence":"additional","affiliation":[{"name":"ALYN - Children and Adolescent Rehabilitation Center 3 , Jerusalem 9109002 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Edvardson","sequence":"additional","affiliation":[{"name":"ALYN - Children and Adolescent Rehabilitation Center 3 , Jerusalem 9109002 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gali","family":"Prag","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Sagol School of Neuroscience, Tel-Aviv University 4 , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3595-7075","authenticated-orcid":false,"given":"Tamar","family":"Harel","sequence":"additional","affiliation":[{"name":"Hadassah Medical Center 5 Department of Genetics , , Jerusalem 91120 , Israel"},{"name":"Hebrew University of Jerusalem 6 Faculty of Medicine , , Jerusalem 9112102 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6054-4128","authenticated-orcid":false,"given":"Yoav","family":"Gothilf","sequence":"additional","affiliation":[{"name":"School of Neurobiology, Biochemistry and Biophysics 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Tel-Aviv University 1 , Faculty of Life Sciences , , Tel-Aviv 6997801 , Israel"},{"name":"Sagol School of Neuroscience, Tel-Aviv University 4 , Tel-Aviv 6997801 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,8,27]]},"reference":[{"key":"2024082707494847800_DMM050746C1","doi-asserted-by":"publisher","first-page":"W344","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules","volume":"44","author":"Ashkenazy","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"2024082707494847800_DMM050746C2","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.cell.2005.08.019","article-title":"Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II","volume":"123","author":"Baillat","year":"2005","journal-title":"Cell"},{"key":"2024082707494847800_DMM050746C3","doi-asserted-by":"publisher","first-page":"107917","DOI":"10.1016\/j.celrep.2020.107917","article-title":"The human integrator complex facilitates transcriptional elongation by endonucleolytic cleavage of nascent transcripts","volume":"32","author":"Beckedorff","year":"2020","journal-title":"Cell Reports"},{"key":"2024082707494847800_DMM050746C4","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/S0165-0173(03)00143-7","article-title":"The locus coeruleus\u2013noradrenergic system: modulation of behavioral state and state-dependent cognitive processes","volume":"42","author":"Berridge","year":"2003","journal-title":"Brain Res. 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