The Human Mitochondrial Transcriptome

Mercer, Tim R.; Neph, Shane; Dinger, Marcel E.; Crawford, Joanna; Smith, Martin A.; Shearwood, Anne Marie J.; Haugen, Eric; Bracken, Cameron P.; Rackham, Oliver; Stamatoyannopoulos, J; Filipovska, Aleksandra; Mattick, John S.

doi:10.1016/j.cell.2011.06.051

Cited by 780 publications

(884 citation statements)

References 63 publications

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“…(3) The two RNA-seq data sets 8,9 used in this study were Expression variability of mitochondrial DNA-encoded genes G Wang et al derived from poly(A)-enriched RNA pools, and were not generated using strand-specific RNA-seq. These might influence the estimation of the levels of mtDNA gene expression because of the different polyadenylation statuses of mtDNA genes 13,60,61 and the possible cross-mapping between L-and H-strand-derived mitochondrial transcripts. 60 Nevertheless, because these technical limitations systematically influenced all samples in the same manner on the same order of magnitude, our main results in connection with the between-individual expression variability should not be affected.…”

Section: Discussionmentioning

confidence: 99%

Population-level expression variability of mitochondrial DNA-encoded genes in humans

et al. 2014

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Human mitochondria contain multiple copies of a circular genome made up of double-stranded DNA (mtDNA) that encodes proteins involved in cellular respiration. Transcript abundance of mtDNA-encoded genes varies between human individuals, yet the level of variation in the general population has not been systematically assessed. In the present study, we revisited large-scale RNA sequencing data generated from lymphoblastoid cell lines of HapMap samples of European and African ancestry to estimate transcript abundance and quantify expression variation for mtDNA-encoded genes. In both populations, we detected up to over 100-fold difference in mtDNA gene expression between individuals. The marked variation was not due to differences in mtDNA copy number between individuals, but was shaped by the transcription of hundreds of nuclear genes. Many of these nuclear genes were co-expressed with one another, resulting in a module-enriched co-expression network. Significant correlations in expression between genes of the mtDNA and nuclear genomes were used to identify factors involved with the regulation of mitochondrial functions. In conclusion, we determined the baseline amount of variability in mtDNA gene expression in general human populations and cataloged a complete set of nuclear genes whose expression levels are correlated with those of mtDNA-encoded genes. Our findings will enable the integration of information from both mtDNA and nuclear genetic systems, and facilitate the discovery of novel regulatory pathways involving mitochondrial functions.

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Section: Discussionmentioning

confidence: 99%

Population-level expression variability of mitochondrial DNA-encoded genes in humans

et al. 2014

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“…First, two recent, independent studies have shown the presence of the RNA subunit of both P and MRP RNases in the matrix of human mitochondria (97,99). Although the corresponding protein subunits have not been found in this organelle, from the protein composition already described, it can be inferred that their function could be performed by a different set of proteins.…”

Section: Exceptions To the Rule: Uncommon Sources For Rnase P/mrp Funmentioning

confidence: 98%

Ribonucleases P/MRP and the Expanding Ribonucleoprotein World

et al. 2012

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SummaryOne of the hallmarks of life is the widespread use of certain essential ribozymes. The ubiquitous ribonuclease P (RNase P) and eukaryotic RNase MRP are essential complexes where a structured, noncoding RNA acts in catalysis. Recent discoveries have elucidated the three-dimensional structure of the ancestral ribonucleoprotein complex, suggested the possibility of a proteinonly composition in organelles, and even noted the absence of RNase P in a non-free-living organism. With respect to these last two findings, import mechanisms for RNases P/MRP into mitochondria have been demonstrated, and RNase P is present in organisms with some of the smallest known genomes. Together, these results have led to an ongoing debate regarding the precise definition of how ''essential'' these ribozymes truly are. IUBMBIUBMB Life, 64(6): [521][522][523][524][525][526][527][528] 2012

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“…The 16,569‐bp human mtDNA contains 13 genes that codify proteins involved in mitochondrial oxidative phosphorylation (OXPHOS), as well as 2 rRNA and 22 tRNA genes that are necessary for protein synthesis within mitochondria (Mercer et al ., 2011). Mitochondria are one of the most important players to understand the aging process at the cellular level as they are both the main source and target of oxidative damage (Gomez‐Cabrera et al ., 2012).…”

Section: Mitochondrial Haplogroups and Elmentioning

confidence: 99%

The mitochondrial‐derived peptide MOTS‐c: a player in exceptional longevity?

et al. 2015

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SummaryMitochondrial‐derived peptides (MDP) are encoded by functional short open reading frames in the mitochondrial DNA (mtDNA). These include humanin, and the recently discovered mitochondrial open reading frame of the 12S rRNA‐c (MOTS‐c). Although more research is needed, we suggest that the m.1382A>C polymorphism located in the MOTS‐c encoding mtDNA, which is specific for the Northeast Asian population, may be among the putative biological mechanisms explaining the high longevity of Japanese people.

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The Human Mitochondrial Transcriptome

Cited by 780 publications

References 63 publications

Population-level expression variability of mitochondrial DNA-encoded genes in humans

Population-level expression variability of mitochondrial DNA-encoded genes in humans

Ribonucleases P/MRP and the Expanding Ribonucleoprotein World

The mitochondrial‐derived peptide MOTS‐c: a player in exceptional longevity?

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