ArticleGenetics1999
Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA.
Article in Genetics, 1999. 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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Who cites it
67 citing papers in PubMed, 277 citations in OpenAlex.
- A Post-Mortem Molecular Damage Profile in the Ancient Human Mitochondrial DNA.Molecular ecology resources · 2025Article
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- Global demographic history of human populations inferred from whole mitochondrial genomes.Royal Society open science · 2018Article
- Influence of Electron-Holes on DNA Sequence-Specific Mutation Rates.Genome biology and evolution · 2018Article
- Prevalence of somatic mitochondrial mutations and spatial distribution of mitochondria in non-small cell lung cancer.British journal of cancer · 2017Article
- Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis.BMC genetics · 2017Article
- Phylogenetic analysis of Tibetan mastiffs based on mitochondrial hypervariable region I.Journal of genetics · 2017Article
- Phylogeography, genetic diversity and demographic history of the Iranian Kurdish groups based on mtDNA sequences.Journal of genetics · 2016Article
- Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.European journal of human genetics : EJHG · 2016Article
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- Declining transition/transversion ratios through time reveal limitations to the accuracy of nucleotide substitution models.BMC evolutionary biology · 2015Article
- Where are the Caribs? Ancient DNA from ceramic period human remains in the Lesser Antilles.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2015Article
- A South American Prehistoric Mitogenome: Context, Continuity, and the Origin of Haplogroup C1d.PloS one · 2015Article
- The First Mitogenome of the Cyprus Mouflon (Ovis gmelini ophion): New Insights into the Phylogeny of the Genus Ovis.PloS one · 2015Article
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- Revised timeline and distribution of the earliest diverged human maternal lineages in southern Africa.PloS one · 2015Article
- The Carpathian range represents a weak genetic barrier in South-East Europe.BMC genetics · 2014Article
- Mitochondrial DNA variants in obesity.PloS one · 2014Article
- The expanded mtDNA phylogeny of the Franco-Cantabrian region upholds the pre-neolithic genetic substrate of Basques.PloS one · 2013Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study provides a comprehensive survey of the complex pattern of nucleotide substitution in the control region of human mtDNA, which is of central importance to the studies of human evolution. A total of 1229 different hypervariable region I (HVRI) and 385 different hypervariable region II (HVRII) sequences were analyzed using a complex substitution model. Moreover, we suggest a new method to assign relative rates to each site in the sequence. Estimates are based on maximum-likelihood methods applied to randomly selected subsets of sequences. Our results indicate that the rate of substitution in HVRI is approximately twice as high as in HVRII and that this difference is mainly due to a higher frequency of pyrimidine transitions in HVRI. However, rate heterogeneity is more pronounced in HVRII.
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