期刊
BLOOD
卷 124, 期 18, 页码 2784-2792出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2014-04-526301
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资金
- National Institutes of Health grants from the National Heart, Lung, and Blood Institute [5R01 HL079582-11]
- National Institute of Diabetes and Digestive and Kidney Diseases [5 P30 DK056465, R01 DK098057]
- Seattle Children's Hospital Butterfly Guild
Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition. Genetic and molecular studies have uncovered distinct abnormalities in ribosome biogenesis underlying each of these 3 disorders. How defects in ribosomes, the essential organelles required for protein biosynthesis in all cells, cause tissue-specific abnormalities in human disease remains a question of fundamental scientific and medical importance. Here we reviewthe overlapping and distinct clinical features of these 3 syndromes and discuss current knowledge regarding the ribosomal pathways disrupted in each of these disorders. We also explore the increasing complexity of ribosome biology and how this informs our understanding of developmental biology and human disease.
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