High-resolution genomic analysis of human mitochondrial RNA sequence variation - PubMed (original) (raw)
. 2014 Apr 25;344(6182):413-5.
doi: 10.1126/science.1251110.
Affiliations
- PMID: 24763589
- DOI: 10.1126/science.1251110
High-resolution genomic analysis of human mitochondrial RNA sequence variation
Alan Hodgkinson et al. Science. 2014.
Abstract
Mutations in the mitochondrial genome are associated with multiple diseases and biological processes; however, little is known about the extent of sequence variation in the mitochondrial transcriptome. By ultra-deeply sequencing mitochondrial RNA (>6000×) from the whole blood of ~1000 individuals from the CARTaGENE project, we identified remarkable levels of sequence variation within and across individuals, as well as sites that show consistent patterns of posttranscriptional modification. Using a genome-wide association study, we find that posttranscriptional modification of functionally important sites in mitochondrial transfer RNAs (tRNAs) is under strong genetic control, largely driven by a missense mutation in MRPP3 that explains ~22% of the variance. These results reveal a major nuclear genetic determinant of posttranscriptional modification in mitochondria and suggest that tRNA posttranscriptional modification may affect cellular energy production.
Comment in
- RNA: All sorts of mitochondrial RNA.
Jones B. Jones B. Nat Rev Genet. 2014 Jun;15(6):364. doi: 10.1038/nrg3736. Epub 2014 May 8. Nat Rev Genet. 2014. PMID: 24805123 No abstract available.
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