{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:17:55Z","timestamp":1792592275983,"version":"4.5.0"},"reference-count":55,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2016,11,11]],"date-time":"2016-11-11T00:00:00Z","timestamp":1478822400000},"content-version":"vor","delay-in-days":303,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,5,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mutations in the Shwachman\u2013Bodian\u2013Diamond Syndrome (SBDS) gene cause Shwachman\u2013Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functionality affects the translation of specific mRNAs and whether this could play a role in the development of the clinical features of SDS. Here, we report that translation of the C\/EBP\u03b1 and -\u03b2 mRNAs, that are indispensible regulators of granulocytic differentiation, is altered by SBDS mutations or knockdown. We show that SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C\/EBP\u03b1-p30 and C\/EBP\u03b2-LIP, which is controlled by a single cis-regulatory upstream open reading frame (uORF) in the 5\u2032 untranslated regions (5\u2032 UTRs) of both mRNAs. Furthermore, we show that as a consequence of the C\/EBP\u03b1 and -\u03b2 deregulation the expression of MYC is decreased with associated reduction in proliferation, suggesting that failure of progenitor proliferation contributes to the haematological phenotype of SDS. Therefore, our study provides the first indication that disturbance of specific translation by loss of SBDS function may contribute to the development of the SDS phenotype.<\/jats:p>","DOI":"10.1093\/nar\/gkw005","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T03:30:36Z","timestamp":1452742236000},"page":"4134-4146","source":"Crossref","is-referenced-by-count":43,"title":["Shwachman\u2013Bodian\u2013Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from\n                    <i>C\/EBP\u03b1<\/i>\n                    and\n                    <i>C\/EBP\u03b2<\/i>\n                    mRNAs"],"prefix":"10.1093","volume":"44","author":[{"given":"Kyungmin","family":"In","sequence":"first","affiliation":[{"name":"1Leibniz Institute on Aging - Fritz Lipmann Institute, Beutenbergstrasse 11, D-07745 Jena, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad A.","family":"Zaini","sequence":"additional","affiliation":[{"name":"1Leibniz Institute on Aging - Fritz Lipmann Institute, Beutenbergstrasse 11, D-07745 Jena, Germany"},{"name":"2European Institute for the Biology of Ageing (ERIBA), University Medical Center Groningen, University of Groningen, 9700 AD, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"1Leibniz Institute on Aging - Fritz Lipmann Institute, Beutenbergstrasse 11, D-07745 Jena, Germany"},{"name":"2European Institute for the Biology of Ageing (ERIBA), University Medical Center Groningen, University of Groningen, 9700 AD, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan J.","family":"Warren","sequence":"additional","affiliation":[{"name":"3Cambridge Institute for Medical Research, Wellcome Trust-Medical Research Council Stem Cell Institute, the Department of Haematology, University of Cambridge, CB2 0XY, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"von\u00a0Lindern","sequence":"additional","affiliation":[{"name":"4Sanquin Research and Landsteiner Laboratory, Department of Hematopoiesis, 1066 CX Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6318-7210","authenticated-orcid":false,"given":"Cornelis F.","family":"Calkhoven","sequence":"additional","affiliation":[{"name":"1Leibniz Institute on Aging - Fritz Lipmann Institute, Beutenbergstrasse 11, D-07745 Jena, Germany"},{"name":"2European Institute for the Biology of Ageing (ERIBA), University Medical Center Groningen, University of Groningen, 9700 AD, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,1,13]]},"reference":[{"key":"2026090222465278800_B1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat. 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