{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:41:05Z","timestamp":1791222065701,"version":"4.1.0"},"reference-count":36,"publisher":"American Society of Hematology","issue":"21","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise genetic mechanism that leads to EFL1-induced SDS remains incompletely understood. Here we present 3 unrelated Korean SDS patients who carry biallelic pathogenic variants in EFL1 with biased allele frequencies, resulting from a bone marrow\u2013specific somatic uniparental disomy in chromosome 15. The recombination events generated cells that were homozygous for the relatively milder variant, allowing for the evasion of catastrophic physiologic consequences. However, the milder EFL1 variant was still solely able to impair 80S ribosome assembly and induce SDS features in cell line and animal models. The loss of EFL1 resulted in a pronounced inhibition of terminal oligopyrimidine element\u2013containing ribosomal protein transcript 80S assembly. Therefore, we propose a more accurate pathogenesis mechanism of EFL1 dysfunction that eventually leads to aberrant translational control and ribosomopathy.<\/jats:p>","DOI":"10.1182\/blood.2021010913","type":"journal-article","created":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T14:52:08Z","timestamp":1623423128000},"page":"2117-2128","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":21,"title":["Somatic uniparental disomy mitigates the most damaging\n                    <i>EFL1<\/i>\n                    allele combination in Shwachman-Diamond syndrome"],"prefix":"10.1182","volume":"138","author":[{"given":"Sangmoon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Hoon","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong Dong","family":"Jeong","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8775-9586","authenticated-orcid":false,"given":"Che Ry","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Dae","family":"Kim","sequence":"additional","affiliation":[{"name":"Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah-Ra","family":"Kim","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boryeong","family":"Park","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Jin","family":"Son","sequence":"additional","affiliation":[{"name":"Laboratory of Developmental Biology and Genomics, Research Institute for Veterinary Science, and BK21 PLUS Program for Creative Veterinary Science Research, College of Veterinary Medicine, and"},{"name":"Korea Mouse Phenotyping Center, Seoul National University, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9867-8044","authenticated-orcid":false,"given":"Oleksandr","family":"Kokhan","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taekyeong","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3064-2974","authenticated-orcid":false,"given":"Jae Sung","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Bae","family":"Sohn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok-Hwa","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, VIC 365 Children\u2019s Hospital, Incheon, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0407-7828","authenticated-orcid":false,"given":"Jung Min","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8514-377X","authenticated-orcid":false,"given":"Tae-Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan T.","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, VA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1177-6958","authenticated-orcid":false,"given":"Je Kyung","family":"Seong","sequence":"additional","affiliation":[{"name":"Laboratory of Developmental Biology and Genomics, Research Institute for Veterinary Science, and BK21 PLUS Program for Creative Veterinary Science Research, College of Veterinary Medicine, and"},{"name":"Korea Mouse Phenotyping Center, Seoul National University, Seoul, South Korea;"},{"name":"Interdisciplinary Program for Bioinformatics\u2013Program for Cancer Biology, BIO-MAX\/N-Bio Institute, Seoul National University, Seoul, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suk-Won","family":"Jin","sequence":"additional","affiliation":[{"name":"Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT;"},{"name":"School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, South Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyoung Jin","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea;"},{"name":"Seoul National University Cancer Research Institute, Seoul, South Korea; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0394-474X","authenticated-orcid":false,"given":"Hyeon Ho","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea;"},{"name":"Institute for Future Medicine, Samsung Medical Center, Seoul, South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9195-1455","authenticated-orcid":false,"given":"Murim","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea;"},{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul, South 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