| Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. | |
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MedLine Citation:
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PMID: 21435510 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the latter two non-DBA disorders of ribosome function. Both SDS and 5q- syndrome lead to impaired hematopoiesis and a predisposition to leukemia. SDS, due to bi-allelic mutations of the SBDS gene, is a multi-system disorder that also includes bony abnormalities, and pancreatic and neurocognitive dysfunction. SBDS associates with the 60S subunit in human cells and has a role in subunit joining and translational activation in yeast models. In contrast, 5q- syndrome is associated with acquired haplo-insufficiency of RPS14, a component of the small 40S subunit. RPS14 is critical for 40S assembly in yeast models, and depletion of RPS14 in human CD34(+) cells is sufficient to recapitulate the 5q- erythroid defect. Both SDS and the 5q- syndrome represent important models of ribosome function and may inform future treatment strategies for the ribosomopathies. |
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Authors:
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Nicholas Burwick; Akiko Shimamura; Johnson M Liu |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Seminars in hematology Volume: 48 ISSN: 1532-8686 ISO Abbreviation: Semin. Hematol. Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-25 Completed Date: 2011-10-13 Revised Date: 2012-04-06 |
Medline Journal Info:
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Nlm Unique ID: 0404514 Medline TA: Semin Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 136-43 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Diamond-Blackfan Anemia, Macrocytic / genetics, metabolism*, pathology* Bone Marrow Diseases / genetics, metabolism*, pathology* Chromosome Deletion Chromosomes, Human, Pair 5 / genetics, metabolism Exocrine Pancreatic Insufficiency / genetics, metabolism*, pathology* Humans Lipomatosis Ribosomes / genetics, metabolism*, pathology* |
| Grant Support | |
ID/Acronym/Agency:
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R01 HL079582-10/HL/NHLBI NIH HHS; R01 HL079582-11/HL/NHLBI NIH HHS; R03 AI079734-02/AI/NIAID NIH HHS; R21 DE019963-02/DE/NIDCR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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