ArticleAmerican journal of human genetics2003
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 1 of them a synthesis that pooled it.
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Who cites it
74 citing papers in PubMed, 1 synthesis or guideline pooled it, 239 citations in OpenAlex.
- Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.EBioMedicine · 2022Pooled it
- Review
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- MitoTracer facilitates the identification of informative mitochondrial mutations for precise lineage reconstruction.PLoS computational biology · 2025Article
- A comparison of genomic diversity and demographic history of the North Atlantic and Southwest Atlantic southern right whales.Molecular ecology · 2024Article
- A Timeframe for SARS-CoV-2 Genomes: A Proof of Concept for Postmortem Interval Estimations.International journal of molecular sciences · 2022Article
- Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.Scientific reports · 2022Article
- Mitochondrial DNA in forensic use.Emerging topics in life sciences · 2021Article
- Pedigree-based and phylogenetic methods support surprising patterns of mutation rate and spectrum in the gray mouse lemur.Heredity · 2021Article
- Extreme heterogeneity of human mitochondrial DNA from organelles to populations.Nature reviews. Genetics · 2021Review
- Targeting Mitochondrial Dysfunction for Bipolar Disorder.Current topics in behavioral neurosciences · 2021Review
- How many individuals share a mitochondrial genome?PLoS genetics · 2018Article
- Identification and analysis of mtDNA genomes attributed to Finns reveal long-stagnant demographic trends obscured in the total diversity.Scientific reports · 2017Article
- Mitogenomic analysis of a 50-generation chicken pedigree reveals a rapid rate of mitochondrial evolution and evidence for paternal mtDNA inheritance.Biology letters · 2015Article
- Mitochondrial DNA mutations in single human blood cells.Mutation research · 2015Review
- Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing.Forensic science international. Genetics · 2015Review
- Time dependency of foamy virus evolutionary rate estimates.BMC evolutionary biology · 2015Article
- Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Article
- Maternal ancestry and population history from whole mitochondrial genomes.Investigative genetics · 2015Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
Abstract
We have extended our previous analysis of the pedigree rate of control-region divergence in the human mitochondrial genome. One new germline mutation in the mitochondrial DNA (mtDNA) control region was detected among 185 transmission events (generations) from five Leber hereditary optic neuropathy (LHON) pedigrees. Pooling the LHON pedigree analyses yields a control-region divergence rate of 1.0 mutation/bp/10(6) years (Myr). When the results from eight published studies that used a similar approach were pooled with the LHON pedigree studies, totaling >2,600 transmission events, a pedigree divergence rate of 0.95 mutations/bp/Myr for the control region was obtained with a 99.5% confidence interval of 0.53-1.57. Taken together, the cumulative results support the original conclusion that the pedigree divergence rate for the control region is approximately 10-fold higher than that obtained with phylogenetic analyses. There is no evidence that any one factor explains this discrepancy, and the possible roles of mutational hotspots (rate heterogeneity), selection, and random genetic drift and the limitations of phylogenetic approaches to deal with high levels of homoplasy are discussed. In addition, we have extended our pedigree analysis of divergence in the mtDNA coding region. Finally, divergence of complete mtDNA sequences was analyzed in two tissues, white blood cells and skeletal muscle, from each of 17 individuals. In three of these individuals, there were four instances in which an mtDNA mutation was found in one tissue but not in the other. These results are discussed in terms of the occurrence of somatic mtDNA mutations.
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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.