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| Status |
Public on Jul 02, 2011 |
| Title |
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders |
| Organism |
Drosophila melanogaster |
| Experiment type |
Expression profiling by array
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| Summary |
Human peroxisome biogenesis disorders are lethal genetic disease in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use of reactive oxygen species for detoxification. Using cultured cells, we systematically characterized the peroxisome assembly phenotypes associated with dsRNA-mediated knockdown of 14 predicted Drosophila homologs of PEX genes (encoding peroxins; required for peroxisome assembly and linked to peroxisome biogenesis disorders), and confirmed that at least 13 of them are required for normal peroxisome assembly. We also demonstrate the relevance of Drosophila as a genetic model for the early developmental defects associated with the human peroxisome biogenesis disorders. Mutation of the PEX1 gene is the most common cause of peroxisome biogenesis disorders and is one of the causes of the most severe form of the disease, Zellweger syndrome. Inherited mutations in Drosophila Pex1 correlate with reproducible defects during early development. Notably, Pex1 mutant larvae exhibit abnormalities that are analogous to those exhibited by Zellweger syndrome patients, including developmental delay, poor feeding, severe structural abnormalities in the peripheral and central nervous systems, and early death. Finally, microarray analysis defined clusters of genes whose expression varied significantly between wild-type and mutant larvae, implicating peroxisomal function in neuronal development, innate immunity, lipid and protein metabolism, gamete formation, and meiosis.
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| Overall design |
Expression profiles were analyzed in triplicate from whole larvae of wild-type and pex1 homozygous mutant Drosophila.
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| Contributor(s) |
Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA |
| Citation(s) |
21669930 |
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| Submission date |
Jul 01, 2011 |
| Last update date |
Aug 28, 2018 |
| Contact name |
Fred David Mast |
| E-mail(s) |
[email protected]
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| Organization name |
University of Alberta
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| Department |
Cell Biology
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| Lab |
Dr. Richard A. Rachubinski
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| Street address |
Medical Sciences Building Room 5-14 Department of Cell Biology University of Alberta
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| City |
Edmonton |
| State/province |
Alberta |
| ZIP/Postal code |
T6G 2H7 |
| Country |
Canada |
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| Platforms (1) |
| GPL1322 |
[Drosophila_2] Affymetrix Drosophila Genome 2.0 Array |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA143407 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE30362_RAW.tar |
12.2 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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