ArticlePLoS genetics2016
Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Meta-analysis identifies mitochondrial DNA sequence variants associated with walking speed.GeroScience · 2018Pooled it
- Climate-associated natural selection in the human mitochondrial genome.Molecular biology and evolution · 2026Article
- Hypoxia leads to reduced mito-nuclear gene expression and increased mtDNA transcriptional pausing in human cells.Communications biology · 2026Article
- Diverse evolutionary trajectories of mitocoding DNA in mammalian and avian nuclear genomes.Genome research · 2025Article
- Vertebrates show coordinated elevated expression of mitochondrial and nuclear genes after birth.Genome research · 2025Article
- Human mitochondrial RNA modifications associate with tissue-specific changes in gene expression, and are affected by sunlight and UV exposure.European journal of human genetics : EJHG · 2022Article
- Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.Human genetics · 2022Article
- Exploring the Effects of Mitonuclear Interactions on Mitochondrial DNA Gene Expression in Humans.Frontiers in genetics · 2022Article
- Article
- Nuclear genome-wide associations with mitochondrial heteroplasmy.Science advances · 2021Article
- Mitochondrial gene expression in single cells shape pancreatic beta cells' sub-populations and explain variation in insulin pathway.Scientific reports · 2021Article
- Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution.Genome research · 2019Article
- Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.Environmental and molecular mutagenesis · 2019Review
- Article
- Association between mitochondrial genetic variation and breast cancer risk: The Multiethnic Cohort.PloS one · 2019Article
- Whole exome sequencing for the identification of CYP3A7 variants associated with tacrolimus concentrations in kidney transplant patients.Scientific reports · 2018Article
- Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.Malaria journal · 2018Article
- A common pattern of DNase I footprinting throughout the human mtDNA unveils clues for a chromatin-like organization.Genome research · 2018Article
- Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth.The Journal of pediatrics · 2018Article
- Initiation of mtDNA transcription is followed by pausing, and diverges across human cell types and during evolution.Genome research · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial DNA (mtDNA) variants have been traditionally used as markers to trace ancient population migrations. Although experiments relying on model organisms and cytoplasmic hybrids, as well as disease association studies, have served to underline the functionality of certain mtDNA SNPs, only little is known of the regulatory impact of ancient mtDNA variants, especially in terms of gene expression. By analyzing RNA-seq data of 454 lymphoblast cell lines from the 1000 Genomes Project, we found that mtDNA variants defining the most common African genetic background, the L haplogroup, exhibit a distinct overall mtDNA gene expression pattern, which was independent of mtDNA copy numbers. Secondly, intra-population analysis revealed subtle, yet significant, expression differences in four tRNA genes. Strikingly, the more prominent African mtDNA gene expression pattern best correlated with the expression of nuclear DNA-encoded RNA-binding proteins, and with SNPs within the mitochondrial RNA-binding proteins PTCD1 and MRPS7. Our results thus support the concept of an ancient regulatory transition of mtDNA-encoded genes as humans left Africa to populate the rest of the world.
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