{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T21:23:01Z","timestamp":1788816181347,"version":"build-2803163510"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"16","license":[{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006823","name":"Boston Children's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK107716"],"award-info":[{"award-number":["R01DK107716"]}],"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":["R33HL154133"],"award-info":[{"award-number":["R33HL154133"]}],"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":["R01GM120094"],"award-info":[{"award-number":["R01GM120094"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Team Telomere\/Million Dollar Bike Ride\/Penn Orphan Disease Center, Harvard Stem Cell Institute, and philanthropic gifts"},{"DOI":"10.13039\/100000048","name":"American Cancer Society","doi-asserted-by":"publisher","award":["RSG-17-037-01-DMC"],"award-info":[{"award-number":["RSG-17-037-01-DMC"]}],"id":[{"id":"10.13039\/100000048","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in DKC1 (encoding dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state levels of TERC, the non-coding RNA component of telomerase. How DKC1 mutations variably impact numerous other snoRNAs remains unclear, which is a barrier to understanding disease mechanisms in DC beyond impaired telomere maintenance. Here, using DC patient iPSCs, we show that mutations in the dyskerin N-terminal extension domain (NTE) dysregulate scaRNA13. In iPSCs carrying the del37L NTE mutation or engineered to carry NTE mutations via CRISPR\/Cas9, but not in those with C-terminal mutations, we found scaRNA13 transcripts with aberrant 3\u2032 extensions, as seen when the exoribonuclease PARN is mutated in DC. Biogenesis of scaRNA13 was rescued by repair of the del37L DKC1 mutation by genome-editing, or genetic or pharmacological inactivation of the polymerase PAPD5, which counteracts PARN. Inspection of the human telomerase cryo-EM structure revealed that in addition to mediating intermolecular dyskerin interactions, the NTE interacts with terminal residues of the associated snoRNA, indicating a role for this domain in 3\u2032 end definition. Our results provide mechanistic insights into the interplay of dyskerin and the PARN\/PAPD5 axis in the biogenesis and accumulation of snoRNAs beyond TERC, broadening our understanding of ncRNA dysregulation in human diseases.<\/jats:p>","DOI":"10.1093\/nar\/gkac706","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T17:08:12Z","timestamp":1661533692000},"page":"9413-9425","source":"Crossref","is-referenced-by-count":7,"title":["Domain specific mutations in dyskerin disrupt 3\u2032 end processing of scaRNA13"],"prefix":"10.1093","volume":"50","author":[{"given":"Neha","family":"Nagpal","sequence":"first","affiliation":[{"name":"Division of Hematology\/Oncology and Stem Cell Program, Boston Children's Hospital; Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Stem Cell Institute; Department of Pediatrics, Harvard Medical School; Manton Center for Orphan Disease Research; Harvard Initiative in RNA Medicine ; Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert K","family":"Tai","sequence":"additional","affiliation":[{"name":"Department of Immunology, Tufts University School of Medicine , Boston, MA, USA"},{"name":"Data Intensive Studies Center, Tufts University , Medford, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayakrishnan","family":"Nandakumar","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular, and Developmental Biology, University of Michigan , Ann Arbor, MI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4910-3118","authenticated-orcid":false,"given":"Suneet","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology and Stem Cell Program, Boston Children's Hospital; Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Stem Cell Institute; Department of Pediatrics, Harvard Medical School; Manton Center for Orphan Disease Research; Harvard Initiative in RNA Medicine ; Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,26]]},"reference":[{"key":"2022090900030329700_B1","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1042\/BST20160089","article-title":"Non-coding RNAs and disease: the classical ncRNAs make a comeback","volume":"44","author":"de\u00a0Almeida","year":"2016","journal-title":"Biochem. 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Genet."},{"key":"2022090900030329700_B6","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1056\/NEJMra0903373","article-title":"Telomere diseases","volume":"361","author":"Calado","year":"2009","journal-title":"N. Engl. J. 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