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| Status |
Public on Mar 23, 2017 |
| Title |
Defects in mitochondrial RNA processing in disease |
| Organism |
Homo sapiens |
| Experiment type |
Other
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| Summary |
The expression of mitochondrially-encoded genes requires the efficient processing of long precursor RNAs at the 5´ and 3´ ends of tRNAs, a process which, when disrupted, results in disease. Two such mutations reside within mt-tRNALeu(UUR); a m.3243A>G transition, which is the most common cause of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and m.3302A>G which often causes mitochondrial myopathy (MM). We used parallel analysis of RNA ends (PARE) that captures the 5´ terminal end of 5´-monophosphorylated mitochondrial RNAs to compare the effects of the m.3243A>G and m.3302A>G mutations on mitochondrial tRNA processing. We confirmed previously identified RNA processing defects, identified common internal cleavage sites and new sites unique to the m.3243A>G mutants that do not correspond to transcript ends. These sites occur in regions of predicted RNA secondary structure, or are in close proximity to such regions, and may identify regions of importance to the processing of mtRNAs.
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| Overall design |
Mitochondrial RNA 5’ end profiles were generated using PARE for 143B cybrid cells containing mtDNA harbouring m.3243A>G and m.3302A>G mutations.
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| Contributor(s) |
Siira SJ, Filipovska A |
| Citation(s) |
28189843 |
| Submission date |
Aug 12, 2016 |
| Last update date |
Jan 07, 2024 |
| Contact name |
Stefan J Siira |
| Organization name |
Harry Perkins Institute of Medical Research
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| Department |
Molecular medicine
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| Lab |
Mitochondrial medicine and biology
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| Street address |
6 Verdun St, Nedlands
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| City |
Perth |
| State/province |
Western Australia |
| ZIP/Postal code |
6009 |
| Country |
Australia |
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| Platforms (1) |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA338772 |
| SRA |
SRP081503 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE85549_RAW.tar |
290.0 Kb |
(http)(custom) |
TAR (of BEDGRAPH) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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