ArticleAmerican journal of human genetics2001
Analysis of European mtDNAs for recombination.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- No consistent evidence for association between mtDNA variants and Alzheimer disease.Neurology · 2012Pooled it
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- The role of mitochondria in rheumatic diseases.Nature reviews. Rheumatology · 2022Review
- An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.Nature genetics · 2021Article
- mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences.Life (Basel, Switzerland) · 2021Review
- mtDNAcombine: tools to combine sequences from multiple studies.BMC bioinformatics · 2021Article
- Exploring the Hereditary Nature of Migraine.Neuropsychiatric disease and treatment · 2021Review
- DNA-protein crosslinks are repaired via homologous recombination in mammalian mitochondria.DNA repair · 2021Article
- Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population.Genes · 2020Article
- What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?Evolutionary applications · 2019Article
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- The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.Nature reviews. Genetics · 2015Review
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- Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.PLoS genetics · 2015Article
- Whole mitochondrial genome sequence of an Indian Plasmodium falciparum field isolate.The Korean journal of parasitology · 2014Article
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- Mechanism of homologous recombination and implications for aging-related deletions in mitochondrial DNA.Microbiology and molecular biology reviews : MMBR · 2013Review
- How good are indirect tests at detecting recombination in human mtDNA?G3 (Bethesda, Md.) · 2013Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
The standard paradigm postulates that the human mitochondrial genome (mtDNA) is strictly maternally inherited and that, consequently, mtDNA lineages are clonal. As a result of mtDNA clonality, phylogenetic and population genetic analyses should therefore be free of the complexities imposed by biparental recombination. The use of mtDNA in analyses of human molecular evolution is contingent, in fact, on clonality, which is also a condition that is critical both for forensic studies and for understanding the transmission of pathogenic mtDNA mutations within families. This paradigm, however, has been challenged recently by Eyre-Walker and colleagues. Using two different tests, they have concluded that recombination has contributed to the distribution of mtDNA polymorphisms within the human population. We have assembled a database that comprises the complete sequences of 64 European and 2 African mtDNAs. When this set of sequences was analyzed using any of three measures of linkage disequilibrium, one of the tests of Eyre-Walker and colleagues, there was no evidence for mtDNA recombination. When their test for excess homoplasies was applied to our set of sequences, only a slight excess of homoplasies was observed. We discuss possible reasons that our results differ from those of Eyre-Walker and colleagues. When we take the various results together, our conclusion is that mtDNA recombination has not been sufficiently frequent during human evolution to overturn the standard paradigm.
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