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| Status |
Public on May 16, 2016 |
| Title |
Knockout of Pseudouridine synthase 1 (PUS1) in mice. [Heart] |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
|
| Summary |
In an effort to produce a mouse model of Mitochondrial Myopathy with Lactic acidosis and Sideroblastic Anemia (MLASA), we knocked out the gene for Pseudouridine synthase 1 (PUS1), an enzyme that modifies uridine to pseudouridine in many cytoplasmic and mitochondrial tRNAs, as well as other cellular RNAs. The Pus1-/- mice are viable, are born at the expected Mendelian frequency, and are non-dysmorphic. The PUS1 mRNA and certain pseudouridine modifications are absent in cytoplasmic and mitochondrial tRNAs in the Pus1-/- mice. The Pus1-/- mice display reduce exercise capacity at 14 weeks, with alterations in muscle morphology, histology, and physiology. Red gastrocnemius muscle from Pus1-/- mice shows reduced number and size of mitochondria and reduced Cytochrome C oxidase activity.
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| Overall design |
Two-condition, two-color experiment: Mouse wild type PUS1 and homozygous mutant PUS1 heart tissue samples: 4 biological replicates each.
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| Contributor(s) |
Patton JR, Altomare D |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Feb 11, 2016 |
| Last update date |
Feb 02, 2018 |
| Contact name |
Diego Altomare |
| Organization name |
University of South Carolina
|
| Department |
Department of Drug Discovery and Biomedical Sciences
|
| Lab |
Functional Genomics Core
|
| Street address |
715 Sumter Street, Room 617
|
| City |
Columbia |
| State/province |
SC |
| ZIP/Postal code |
29208 |
| Country |
USA |
| |
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| Platforms (1) |
| GPL10787 |
Agilent-028005 SurePrint G3 Mouse GE 8x60K Microarray (Probe Name version) |
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| Samples (8)
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| This SubSeries is part of SuperSeries: |
| GSE77823 |
Knockout of Pseudouridine synthase 1 (PUS1) in mice. |
|
| Relations |
| BioProject |
PRJNA311638 |
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