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| Status |
Public on Apr 28, 2016 |
| Title |
Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
We investigated the changes in the abundance of reads across the entire mitochondrial transcriptome, we found an increase in the regions that span gene boundaries, where RNA processing is required to release individual mitochondrial RNAs from the precursor transcripts. These data confirm an impairment of mt-tRNA processing efficiency without severe effects on mature mt-mRNA or mt-tRNA steady-state levels. Strand-specific coverage profiles were generated in bedGraph format and normalised to library size (RPM; reads per million mapped).
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| Overall design |
Mitochondrial RNA from control and patient fibroblast cells, with a wild type and biallelic TRMT10C variants, respectively, were sequenced and the RNA processing analyzed
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| Contributor(s) |
Siira SJ, Filipovska A |
| Citation(s) |
27132592 |
| Submission date |
Mar 11, 2016 |
| Last update date |
May 15, 2019 |
| Contact name |
Stefan J Siira |
| Organization name |
Harry Perkins Institute of Medical Research
|
| Department |
Molecular medicine
|
| Lab |
Mitochondrial medicine and biology
|
| Street address |
6 Verdun St, Nedlands
|
| City |
Perth |
| State/province |
Western Australia |
| ZIP/Postal code |
6009 |
| Country |
Australia |
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| Platforms (1) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA314985 |
| SRA |
SRP071665 |
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