{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:45:42Z","timestamp":1791283542101,"version":"4.1.0"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:00:00Z","timestamp":1698192000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-166130"],"award-info":[{"award-number":["PJT-166130"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Dyskerin is a component of the human telomerase complex and is involved in stabilizing the human telomerase RNA (hTR). Many mutations in the DKC1 gene encoding dyskerin are found in X-linked dyskeratosis congenita (X-DC), a premature aging disorder and other related diseases. The C-terminal extension (CTE) of dyskerin contributes to its interaction with the molecular chaperone SHQ1 during the early stage of telomerase biogenesis. Disease mutations in this region were proposed to disrupt dyskerin-SHQ1 interaction and destabilize dyskerin, reducing hTR levels indirectly. However, biochemical evidence supporting this hypothesis is still lacking. In addition, the effects of many CTE disease mutations on hTR have not been examined. In this study, we tested eight dyskerin CTE variants and showed that they failed to maintain hTR levels. These mutants showed slightly reduced but not abolished interaction with SHQ1, and caused defective binding to hTR. Deletion of the CTE further reduced binding to hTR, and perturbed localization of dyskerin to the Cajal bodies and the nucleolus, and the interaction with TCAB1 as well as GAR1. Our findings suggest impaired dyskerin-hTR interaction in cells as a previously overlooked mechanism through which dyskerin CTE mutations cause X-DC and related telomere syndromes.<\/jats:p>","DOI":"10.1093\/hmg\/ddad180","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T21:10:09Z","timestamp":1698268209000},"page":"318-332","source":"Crossref","is-referenced-by-count":10,"title":["The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization"],"prefix":"10.1093","volume":"33","author":[{"given":"Jian","family":"Qin","sequence":"first","affiliation":[{"name":"McGill University Department of Anatomy and Cell Biology, , 3640 University Street, Montreal, Quebec, QC H3A 0C7 , Canada"},{"name":"Jewish General Hospital Lady Davis Institute, , 3755 Chem, de la C\u00f4te-Sainte-Catherine, Montr\u00e9al, QC H3T 1E2 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Garus","sequence":"additional","affiliation":[{"name":"McGill University Department of Anatomy and Cell Biology, , 3640 University Street, Montreal, Quebec, QC H3A 0C7 , Canada"},{"name":"Jewish General Hospital Lady Davis Institute, , 3755 Chem, de la C\u00f4te-Sainte-Catherine, Montr\u00e9al, QC H3T 1E2 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7201-0975","authenticated-orcid":false,"given":"Chantal","family":"Autexier","sequence":"additional","affiliation":[{"name":"McGill University Department of Anatomy and Cell Biology, , 3640 University Street, Montreal, Quebec, QC H3A 0C7 , Canada"},{"name":"Jewish General Hospital Lady Davis Institute, , 3755 Chem, de la C\u00f4te-Sainte-Catherine, Montr\u00e9al, QC H3T 1E2 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,10,25]]},"reference":[{"key":"2024082307261008400_ref1","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/s41580-021-00328-y","article-title":"Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization","volume":"22","author":"Lim","year":"2021","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2024082307261008400_ref2","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/345458a0","article-title":"Telomeres shorten during ageing of human fibroblasts","volume":"345","author":"Harley","year":"1990","journal-title":"Nature"},{"key":"2024082307261008400_ref3","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1038\/nrg3246","article-title":"The telomere syndromes","volume":"13","author":"Armanios","year":"2012","journal-title":"Nat Rev 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