{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:00:39Z","timestamp":1790791239425,"version":"4.1.0"},"reference-count":78,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"E-RARE"},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-15-RAR3-0007-04"],"award-info":[{"award-number":["ANR-15-RAR3-0007-04"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-16-CE11-0029"],"award-info":[{"award-number":["ANR-16-CE11-0029"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-15-CE12-0001"],"award-info":[{"award-number":["ANR-15-CE12-0001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Institut Imagine"},{"name":"INCa\/Cancerop\u00f4le Ile de France"},{"name":"INSERM, Ligue Nationale contre le Cancer"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase complex, constituted of the catalytic subunit TERT, the RNA matrix hTR and several cofactors, including the H\/ACA box ribonucleoproteins Dyskerin, NOP10, GAR1, NAF1 and NHP2, regulates telomere length. In humans, inherited defects in telomere length maintenance are responsible for a wide spectrum of clinical premature aging manifestations including pulmonary fibrosis (PF), dyskeratosis congenita (DC), bone marrow failure and predisposition to cancer. NHP2 mutations have been so far reported only in two patients with DC. Here, we report the first case of H\u00f8yeraal\u2013Hreidarsson syndrome, the severe form of DC, caused by biallelic missense mutations in NHP2. Additionally, we identified three unrelated patients with PF carrying NHP2 heterozygous mutations. Strikingly, one of these patients acquired a somatic mutation in the promoter of TERT that likely conferred a selective advantage in a subset of blood cells. Finally, we demonstrate that a functional deficit of human NHP2 affects ribosomal RNA biogenesis. Together, our results broaden the functional consequences and clinical spectrum of NHP2 deficiency.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa011","type":"journal-article","created":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T15:09:54Z","timestamp":1579273794000},"page":"907-922","source":"Crossref","is-referenced-by-count":57,"title":["NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and H\u00f8yeraal\u2013Hreidarsson syndrome"],"prefix":"10.1093","volume":"29","author":[{"given":"Maname","family":"Benyelles","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e La Ligue contre le Cancer, Paris, France"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"O\u2019Donohue","sequence":"first","affiliation":[{"name":"Laboratoire de Biologie Mol\u00e9culaire Eucaryote, Centre de Biologie Int\u00e9grative (CBI), Universit\u00e9 de Toulouse, CNRS, UPS, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Kermasson","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e La Ligue contre le Cancer, Paris, France"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Lainey","sequence":"first","affiliation":[{"name":"Hematology Laboratory, Robert DEBRE Hospital-APHP and INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Borie","sequence":"first","affiliation":[{"name":"APHP, H\u00f4pital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France"},{"name":"INSERM, Unit\u00e9 1152, Paris, France"},{"name":"Universit\u00e9 Paris Diderot, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Lagresle-Peyrou","sequence":"first","affiliation":[{"name":"Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Paris, France"},{"name":"University of Paris Descartes-Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilario","family":"Nunes","sequence":"first","affiliation":[{"name":"Service de Pneumologie, Centre de R\u00e9f\u00e9rence des Maladies Pulmonaires rares, H\u00f4pital Avicenne, AP-HP, INSERM 1272, Universit\u00e9 Paris 13, Bobigny, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Cazelles","sequence":"first","affiliation":[{"name":"Service d'h\u00e9matologie adulte, H\u00f4pital Necker- Enfants malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Fourrage","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Genomics platform, Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"},{"name":"Genomic Core Facility, Imagine Institute-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ollivier","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Genomics platform, Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"},{"name":"Genomic Core Facility, Imagine Institute-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambroise","family":"Marcais","sequence":"first","affiliation":[{"name":"Service d\u2019h\u00e9matologie Adultes, H\u00f4pital Necker-Enfants Malades, Assistance publique h\u00f4pitaux de Paris, Paris, France, Laboratoire d'onco-h\u00e9matologie, Institut Necker-Enfants Malades, INSERM U1151, Universit\u00e9 Paris Descartes, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Gamez","sequence":"first","affiliation":[{"name":"Service de Montpellier, CHU Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Morice-Picard","sequence":"first","affiliation":[{"name":"Service de Dermatologie P\u00e9diatrique, Centre de Reference des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux F-33076, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Caillaud","sequence":"first","affiliation":[{"name":"Service de Pneumologie-Allergologie, H\u00f4pital Gabriel Montpied, Universit\u00e9 Clermont Auvergne, Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Pottier","sequence":"first","affiliation":[{"name":"Univ. Lille, CHU Lille, Institut Pasteur de Lille, EA4483-IMPECS, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"M\u00e9nard","sequence":"first","affiliation":[{"name":"APHP Service de G\u00e9n\u00e9tique, H\u00f4pital Bichat, Paris, France Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahima","family":"Ba","sequence":"first","affiliation":[{"name":"APHP Service de G\u00e9n\u00e9tique, H\u00f4pital Bichat, Paris, France Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Fernandes","sequence":"first","affiliation":[{"name":"Biological Resources Center, Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM US24, CNRS UMS3633, Assistance Publique des H\u00f4pitaux de Paris and Institut Imagine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Crestani","sequence":"first","affiliation":[{"name":"APHP, H\u00f4pital Bichat, Service de Pneumologie A, DHU FIRE, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"de Villartay","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e La Ligue contre le Cancer, Paris, France"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Emmanuel","family":"Gleizes","sequence":"first","affiliation":[{"name":"Laboratoire de Biologie Mol\u00e9culaire Eucaryote, Centre de Biologie Int\u00e9grative (CBI), Universit\u00e9 de Toulouse, CNRS, UPS, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Callebaut","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Mus\u00e9um National d\u2019Histoire Naturelle, UMR CNRS 7590, Institut de Min\u00e9ralogie, de Physique des Mat\u00e9riaux et de Cosmochimie, IMPMC, 75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"first","affiliation":[{"name":"APHP Service de G\u00e9n\u00e9tique, H\u00f4pital Bichat, Paris, France Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0758-8022","authenticated-orcid":false,"given":"Patrick","family":"Revy","sequence":"first","affiliation":[{"name":"INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellis\u00e9e La Ligue contre le Cancer, Paris, France"},{"name":"Paris Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,1,27]]},"reference":[{"key":"2020041507353295800_ref1","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1126\/science.1170633","article-title":"How telomeres solve the end-protection problem","volume":"326","author":"de Lange","year":"2009","journal-title":"Science"},{"key":"2020041507353295800_ref2","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a003558","article-title":"Telomerase: an RNP enzyme synthesizes DNA","volume":"3","author":"Blackburn","year":"2011","journal-title":"Cold Spring Harbor Perspect Biol"},{"key":"2020041507353295800_ref3","doi-asserted-by":"crossref","DOI":"10.3390\/genes7090064","article-title":"Telomerase regulation from beginning to the end","volume":"7","author":"MacNeil","year":"2016","journal-title":"Genes (Basel)"},{"key":"2020041507353295800_ref4","doi-asserted-by":"crossref","first-page":"9028","DOI":"10.1128\/MCB.20.23.9028-9040.2000","article-title":"Human H\/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10","volume":"20","author":"Pogacic","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"2020041507353295800_ref5","doi-asserted-by":"crossref","first-page":"351ra107","DOI":"10.1126\/scitranslmed.aaf7837","article-title":"Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema","volume":"8","author":"Stanley","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"2020041507353295800_ref6","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. Genet."},{"key":"2020041507353295800_ref7","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/B978-0-12-397898-1.00002-5","article-title":"Human telomeres and telomere biology disorders","volume":"125","author":"Savage","year":"2014","journal-title":"Prog. Mol. Biol. Transl. 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Haematol."},{"key":"2020041507353295800_ref17","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1016\/j.jaci.2015.06.008","article-title":"An in vivo genetic reversion highlights the crucial role of Myb-like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation","volume":"136","author":"Le Guen","year":"2015","journal-title":"J. Allergy Clin. 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