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Semin Hematol. 2011 Apr;48(2):106-16. doi: 10.1053/j.seminhematol.2011.02.001.

Animal models of Diamond Blackfan anemia.

Author information

  • 1Department of Genetics, Stanford University, Stanford, CA 94305, USA. kelly.mcgowan@yahoo.com

Abstract

Diamond Blackfan anemia (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as growth retardation, orofacial, hand or limb malformations, urogenital anomalies, and heart defects. The only known cause is heterozygosity for mutations in genes encoding ribosomal proteins. Understanding how defective ribosome biogenesis and function, important for all cells, causes defects in erythropoiesis and tissue-specific phenotypes during development is paramount to the evolution of effective treatment protocols. Here, we discuss how animal models based on mammals, insects, and fish replicate genetic or developmental aspects of DBA and have led to the identification of pathways and candidate molecules that are important in the pathogenesis of the disease. A recurring theme in many of these models suggests that defective ribosome biogenesis induces a p53-dependent cell cycle checkpoint in cells that require high levels of ribosome production and leads to cell type-specific, whole animal phenotypes.

Copyright © 2011 Elsevier Inc. All rights reserved.

PMID:
21435507
[PubMed - indexed for MEDLINE]
PMCID:
PMC3105447
Free PMC Article
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