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RNA

All sorts of mitochondrial RNA

Nature Reviews Genetics volume 15, page 364 (2014)Cite this article

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The researchers carried out high-throughput deep sequencing (>6,000×) of whole-blood RNA in a population sample of 708 individuals from the CARTaGENE project, led by Philip Awadalla (University of Montreal). An average of 14 heteroplasmic sites were recorded per individual, totalling 650 unique sites across all individuals. Thirteen of these sites were found to contain three or more nucleotides (that is, they were multiallelic) across most of the individuals sampled. The majority of these multiallelic sites are situated at the ninth position of tRNAs, and approximately half are known to be post-transcriptionally methlyated. Sequencing of the corresponding nuclear DNA revealed no variation, which indicates that these sites are candidates for RNA modification events.

Genome-wide analysis of nuclear DNA identified a missense mutation (rs11156878) in the mitochondrial RNase P subunit 3 (MRPP3; also known as KIAA0391) gene — which is involved in processing mitochondrial RNA — that has the strongest association with the intra-individual proportion of alternative counts and that accounts for 22% of the variance.

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References

  1. Hodgkinson, A. et al. High-resolution genomic analysis of human mitochondrial RNA sequence variation. Science 344, 413–415 (2014)

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  1. Bryony Jones
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Jones, B. All sorts of mitochondrial RNA. Nat Rev Genet 15, 364 (2014). https://doi.org/10.1038/nrg3736

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