ArticleScientific reports2021
Human molecular evolutionary rate, time dependency and transient polymorphism effects viewed through ancient and modern mitochondrial DNA genomes.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 28 citations in OpenAlex.
- Genetic insights into the origin, admixture, and migration of the early Austronesian peoples.Journal of human genetics · 2026Review
- New Canary Islands Roman mediated settlement hypothesis deduced from coalescence ages of curated maternal indigenous lineages.Scientific reports · 2024Article
- Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.Frontiers in genetics · 2024Article
- Unraveling the mitochondrial phylogenetic landscape of Thailand reveals complex admixture and demographic dynamics.Scientific reports · 2023Article
- Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer.Journal of translational medicine · 2023Article
- Review
- Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.iScience · 2023Article
- Individual Genetic Heterogeneity.Genes · 2022Review
- A Genetic Bottleneck of Mitochondrial DNA During Human Lymphocyte Development.Molecular biology and evolution · 2022Article
- Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.Scientific reports · 2022Article
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1 author at 1 institution in 1 country.
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Abstract
Human evolutionary genetics gives a chronological framework to interpret the human history. It is based on the molecular clock hypothesis that suppose a straightforward relationship between the mutation rate and the substitution rate with independence of other factors as demography dynamics. Analyzing ancient and modern human complete mitochondrial genomes we show here that, along the time, the substitution rate can be significantly slower or faster than the average germline mutation rate confirming a time dependence effect mainly attributable to changes in the effective population size of the human populations, with an exponential growth in recent times. We also detect that transient polymorphisms play a slowdown role in the evolutionary rate deduced from haplogroup intraspecific trees. Finally, we propose the use of the most divergent lineages within haplogroups as a practical approach to correct these molecular clock mismatches.
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