ArticleAmerican journal of human genetics1997
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed.
- The nuclear and mitochondrial genomes need to tango. How is their dance synchronized during development?NAR molecular medicine · 2026Article
- Cytoplasmic inheritance: The transmission of plastid and mitochondrial genomes across cells and generations.Plant physiology · 2025Review
- Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A.Human genome variation · 2025Article
- Nuclear transfer leads to aberrant cell cycle regulation and translation, as determined by gene expression, and selection of mitochondrial DNA in porcine blastocysts.NAR molecular medicine · 2024Article
- Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.European journal of human genetics : EJHG · 2023Article
- DNA damage in preimplantation embryos and gametes: specification, clinical relevance and repair strategies.Human reproduction update · 2022Review
- Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.The New England journal of medicine · 2020Article
- Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.EMBO reports · 2020Review
- Varied Mechanisms and Models for the Varying Mitochondrial Bottleneck.Frontiers in cell and developmental biology · 2019Article
- Mutation-specific effects in germline transmission of pathogenic mtDNA variants.Human reproduction (Oxford, England) · 2018Article
- Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.Development, growth & differentiation · 2018Review
- Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Molecular diagnosis & therapy · 2017Review
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).JIMD reports · 2017Article
- Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.Genetics · 2016Article
- Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.Biochemical Society transactions · 2016Article
- Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.Human reproduction (Oxford, England) · 2016Article
- Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.Human molecular genetics · 2016Article
- Mitochondrial DNA disease and developmental implications for reproductive strategies.Molecular human reproduction · 2015Review
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Authors and funding
4 authors.
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Abstract
Rapid changes in mtDNA variants between generations have led to the bottleneck theory, which proposes a dramatic reduction in mtDNA numbers during early oogenesis. We studied oocytes from a woman with heteroplasmic expression of the mtDNA nt 8993 (T-->G) mutation. Of seven oocytes analyzed, one showed no evidence of the mutation, and the remaining six had a mutant load > 95%. This skewed expression of the mutation in oocytes is not compatible with the conventional bottleneck theory. A possible explanation is that, during amplification of mtDNA in the developing oocyte, mtDNA from one mitochondrion is preferentially amplified. Thus, subsequent mature oocytes may contain predominantly wild-type or mutant mitochondrial genomes.
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