Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

2018/01/15 by Vasileios I. Floros, Angela Pyle, Sabine Dietmann +16 · 250 citations
Biochemistry, Genetics and Molecular Biology · #Biology #DNA Repair Mechanisms #Gene #Genetics #Heteroplasmy #Human mitochondrial genetics #Metabolism and Genetic Disorders #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrion #Mutation

paper · open access · doi:10.1038/s41556-017-0017-8

published in Nature Cell Biology 20(2), 144-151 (Nature Portfolio)

crossref issued 2018/01/15 · crossref published 2018/01/15 · crossref published-online 2018/01/15 · openalex publication_date 2018/01/15 · crossref created 2018/01/15 · crossref published-print 2018/02/01 · crossref deposited 2022/12/15 · openalex created_date 2025/10/10 · crossref indexed 2026/06/27 · openalex updated_date 2026/08/06

Citations

• A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
• Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
• The relation of recombination to mutational advance
• Universal heteroplasmy of human mitochondrial DNA
• The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells
• The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

Cited by

• Patrick Chinnery [wikipedia]