ArticleAmerican journal of human genetics2004
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
71 citing papers in PubMed, 197 citations in OpenAlex.
- MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population.Human genetics · 2017Trial
- The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size.PloS one · 2014Trial
- Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts.International journal of molecular sciences · 2025Article
- Phenogenomic resources immortalized in a panel of wild-derived strains of five species of house mice.Scientific reports · 2025Article
- Article
- Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.Molecular biology and evolution · 2024Article
- Climate-driven mitochondrial selection in lacertid lizards.Ecology and evolution · 2024Article
- Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIV.Mitochondrion · 2024Article
- Feasibility and impact of haplogroup matching for mitochondrial replacement treatment.EMBO reports · 2023Article
- Genomic analysis of a novel Neanderthal from Mezmaiskaya Cave provides insights into the genetic relationships of Middle Palaeolithic populations.Scientific reports · 2022Article
- Variation in the Substitution Rates among the Human Mitochondrial Haplogroup U Sublineages.Genome biology and evolution · 2022Article
- Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.Metabolic brain disease · 2020Article
- Mitogenomes Reveal Multiple Colonization of Mountains by Rattus in Sundaland.The Journal of heredity · 2020Article
- Evidence of Selection Against Damaged Mitochondria During Early Embryogenesis in the Mouse.Frontiers in genetics · 2020Article
- Evidence of Neutral Evolution of Mitochondrial DNA in Human Hepatocellular Carcinoma.Genome biology and evolution · 2019Article
- Article
- MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.Scientific reports · 2019Article
- Evolutionary analysis of mitochondrially encoded proteins of toad-headed lizards, Phrynocephalus, along an altitudinal gradient.BMC genomics · 2018Article
- New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis.Frontiers in genetics · 2018Article
- Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.Development, growth & differentiation · 2018Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-network analysis. The results of the present analyses were complex, in that the action of selection was not indicated by all tests, but this is not surprising, in view of the characteristics and limitations of the different analytical methods. Despite these limitations, there is evidence for both gene-specific and lineage-specific variation in selection. Whole-genome sliding-window approaches indicated a lack of selection in large-scale segments of the coding region. In other tests, we analyzed the ratio of nonsynonymous-to-synonymous substitutions in the 13 protein-encoding mtDNA genes. The most straightforward interpretation of those results is that negative selection has acted on the mtDNA during evolution. Single-gene analyses indicated significant departures from neutrality in the CO1, ND4, and ND6 genes, although the data also suggested the possible operation of positive selection on the AT6 gene. Finally, our results and those of other investigators do not support a simple model in which climatic adaptation has been a major force during human mtDNA evolution.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.