ArticleAmerican journal of human genetics2009
The diversity present in 5140 human mitochondrial genomes.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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67 citing papers in PubMed, 131 citations in OpenAlex.
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- Mitochondrial DNA Haplogroups, Biomarkers of Inflammation and Immune Activation, and Risk of Diabetes in Veterans With and Without Human Immunodeficiency Virus.The Journal of infectious diseases · 2025Article
- Mitochondrial haplotype and sex modulate responses to endurance exercise training.The Journal of physiology · 2025Article
- From Caves to the Savannah, the Mitogenome History of Modern Lions (International journal of molecular sciences · 2024Article
- Mitochondrial DNA sequencing of Kehilan and Hamdani horses from Saudi Arabia.Saudi journal of biological sciences · 2023Article
- Genomic analysis of a novel Neanderthal from Mezmaiskaya Cave provides insights into the genetic relationships of Middle Palaeolithic populations.Scientific reports · 2022Article
- Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes.Scientific reports · 2021Article
- Baseline Characteristics of Mitochondrial DNA and Mutations Associated With Short-Term Posttreatment CD4+T-Cell Recovery in Chinese People With HIV.Frontiers in immunology · 2021Article
- A new method for long-read sequencing of animal mitochondrial genomes: application to the identification of equine mitochondrial DNA variants.BMC genomics · 2020Article
- Phylogeography of 27,000 SARS-CoV-2 Genomes: Europe as the Major Source of the COVID-19 Pandemic.Microorganisms · 2020Article
- Mitochondrial DNA Haplogroups and Frailty in Adults Living with HIV.AIDS research and human retroviruses · 2020Observational
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- Relationships Between Adipose Mitochondrial Function, Serum Adiponectin, and Insulin Resistance in Persons With HIV After 96 Weeks of Antiretroviral Therapy.Journal of acquired immune deficiency syndromes (1999) · 2019Article
- Codon based co-occurrence network motifs in human mitochondria.Scientific reports · 2018Article
- Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.PLoS genetics · 2017Article
- Mitochondrial Haplogroups Modify the Effect of Diabetes Duration and HbA1c on Proliferative Diabetic Retinopathy Risk in Patients With Type 2 Diabetes.Investigative ophthalmology & visual science · 2017Article
- A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain.Schizophrenia research · 2017Article
- Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility.Journal of human genetics · 2017Article
- bModelTest: Bayesian phylogenetic site model averaging and model comparison.BMC evolutionary biology · 2017Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We analyzed the current status (as of the end of August 2008) of human mitochondrial genomes deposited in GenBank, amounting to 5140 complete or coding-region sequences, in order to present an overall picture of the diversity present in the mitochondrial DNA of the global human population. To perform this task, we developed mtDNA-GeneSyn, a computer tool that identifies and exhaustedly classifies the diversity present in large genetic data sets. The diversity observed in the 5140 human mitochondrial genomes was compared with all possible transitions and transversions from the standard human mitochondrial reference genome. This comparison showed that tRNA and rRNA secondary structures have a large effect in limiting the diversity of the human mitochondrial sequences, whereas for the protein-coding genes there is a bias toward less variation at the second codon positions. The analysis of the observed amino acid variations showed a tolerance of variations that convert between the amino acids V, I, A, M, and T. This defines a group of amino acids with similar chemical properties that can interconvert by a single transition.
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