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Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA
Published on: November 14, 2017
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High-resolution genomic analysis of human mitochondrial RNA sequence variation
Alan Hodgkinson1, Youssef Idaghdour, Elias Gbeha
1CHU Sainte-Justine Research Centre, Department of Pediatrics, Faculty of Medicine, Université de Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.
Science (New York, N.Y.)
|April 26, 2014
Summary
Mitochondrial RNA sequencing reveals significant sequence variation and consistent modification patterns. A nuclear gene mutation strongly influences transfer RNA modification, impacting cellular energy production.
Area of Science:
- Genomics
- Molecular Biology
- Mitochondrial Biology
Background:
- Mitochondrial genome mutations link to diseases, but mitochondrial transcriptome variation is poorly understood.
- Investigating sequence variation and posttranscriptional modifications in mitochondrial RNA is crucial.
Purpose of the Study:
- To explore sequence variation in the mitochondrial transcriptome.
- To identify genetic factors controlling posttranscriptional modifications in mitochondrial RNA, particularly transfer RNAs (tRNAs).
Main Methods:
- Ultra-deep sequencing of mitochondrial RNA (>6000×) from ~1000 individuals.
- Genome-wide association study (GWAS) to identify genetic associations with modifications.
Main Results:
- Identified substantial sequence variation within and across individuals in the mitochondrial transcriptome.
- Discovered consistent posttranscriptional modification sites.
- Found strong genetic control over mitochondrial tRNA posttranscriptional modification, primarily driven by an MRPP3 missense mutation accounting for ~22% of variance.
Conclusions:
- Revealed a significant nuclear genetic influence on mitochondrial posttranscriptional modification.
- Suggests that mitochondrial tRNA posttranscriptional modification plays a role in cellular energy production.
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