{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T11:04:09Z","timestamp":1793531049974,"version":"4.5.0"},"reference-count":51,"publisher":"American Society of Hematology","issue":"21","license":[{"start":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T00:00:00Z","timestamp":1645747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised. Expression of HEATR3 variants or repression of HEATR3 expression in primary cells, cell lines of various origins, and yeast models impairs growth, differentiation, pre\u2013ribosomal RNA processing, and ribosomal subunit formation reminiscent of DBA models of large subunit RP gene variants. Consistent with a role of HEATR3 in RP import, HEATR3-depleted cells or patient-derived fibroblasts display reduced nuclear accumulation of uL18. Hematopoietic progenitor cells expressing HEATR3 variants or small-hairpin RNAs knocking down HEATR3 synthesis reveal abnormal acceleration of erythrocyte maturation coupled to severe proliferation defects that are independent of p53 activation. Our study uncovers a new pathophysiological mechanism leading to DBA driven by biallelic HEATR3 variants and the destabilization of a nuclear import protein important for ribosome biogenesis.<\/jats:p>","DOI":"10.1182\/blood.2021011846","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T16:01:22Z","timestamp":1645804882000},"page":"3111-3126","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":48,"title":["<i>HEATR3<\/i>\n                    variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia"],"prefix":"10.1182","volume":"139","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1204-8285","authenticated-orcid":false,"given":"Marie-Fran\u00e7oise","family":"O\u2019Donohue","sequence":"first","affiliation":[{"name":"1MCD,\u00a0Centre de Biologie Int\u00e9grative, Universit\u00e9 de Toulouse, Centre National de la Recherche Scientifique (CNRS), UT3, Toulouse, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8806-6941","authenticated-orcid":false,"given":"Lydie","family":"Da Costa","sequence":"additional","affiliation":[{"name":"2University of Paris Cit\u00e9, Paris, France;"},{"name":"3Hematim EA4666, Amiens, France;"},{"name":"4Laboratory of Excellence for Red Cells, LABEX GR-Ex, Paris, France;"},{"name":"5Service d\u2019H\u00e9matologie Biologique, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Robert Debr\u00e9, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Lezzerini","sequence":"additional","affiliation":[{"name":"6Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, The 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