| Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish. | |
MedLine Citation:
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PMID: 20036229 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by growth retardation, T-cell deficiency, bone marrow failure, anemia and renal failure. SMARCAL1 encodes an ATP-driven annealing helicase. However, the biological function of SMARCAL1 and the molecular basis of SIOD remain largely unclear. In this work, we cloned the zebrafish homologue of the human SMARCAL1 gene and found that smarcal1 regulated cell cycle progression. Morpholino knockdown of smarcal1 in zebrafish recapitulated developmental abnormalities in SIOD patients, including growth retardation, craniofacial abnormality, and haematopoietic and vascular defects. Lack of smarcal1 caused G0/G1 cell cycle arrest and induced cell apoptosis. Furthermore, using Electrophoretic Mobility Shift Assay and reporter assay, we found that SMARCAL1 was transcriptionally inhibited by E2F6, an important cell cycle regulator. Over-expression of E2F6 in zebrafish embryos reduced the expression of smarcal1 mRNA and induced developmental defects similar to those in smarcal1 morphants. These results suggest that SIOD may be caused by defects in cell cycle regulation. Our study provides a model of SIOD and reveals its cellular and molecular bases. |
Authors:
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Cheng Huang; Shanye Gu; Pengchun Yu; Fudong Yu; Chun Feng; Ning Gao; Jiulin Du |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-12-28 |
Journal Detail:
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Title: Developmental biology Volume: 339 ISSN: 1095-564X ISO Abbreviation: Dev. Biol. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-02-17 Completed Date: 2010-04-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372762 Medline TA: Dev Biol Country: United States |
Other Details:
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Languages: eng Pagination: 89-100 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Elsevier Inc. All rights reserved. |
Affiliation:
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Institute for Nutritional Sciences and Key Laboratory of Nutrition and Metabolism, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. chuang@sibs.ac.cn |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Apoptosis Base Sequence Blotting, Western Cell Cycle * DNA Helicases / genetics, physiology* DNA Primers Electrophoretic Mobility Shift Assay Gene Knockdown Techniques In Situ Hybridization Mutation Reverse Transcriptase Polymerase Chain Reaction Zebrafish / embryology* |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; EC 3.6.1.-/DNA Helicases |
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