Lost in the zygote: the dilution of paternal mtDNA upon fertilization

  title={Lost in the zygote: the dilution of paternal mtDNA upon fertilization},
  author={Jonci Nikolai Wolff and Neil J. Gemmell},
The mechanisms by which paternal inheritance of mitochondrial DNA (mtDNA) (paternal leakage) and, subsequently, recombination of mtDNA are prevented vary in a species-specific manner with one mechanism in common: paternally derived mtDNA is assumed to be vastly outnumbered by maternal mtDNA in the zygote. To date, this dilution effect has only been described for two mammalian species, human and mouse. Here, we estimate the mtDNA content of chinook salmon oocytes to evaluate the dilution effect… 

Mitochondrial DNA content of mature spermatozoa and oocytes in the genetic model Drosophila

Using quantitative polymerase chain reaction, the mtDNA content of several laboratory strains of D. melanogaster and D. simulans is estimated to shed light on this discrepancy and on the mitochondrial/mtDNA load of gametes within this system.

Persistence and Transcription of Paternal mtDNA Dependent on the Delivery Strategy Rather than Mitochondria Source in Fish Embryos

The fate of paternal mtDNA in fishes is dependent on the delivery strategy rather than the MT source, suggesting that the presence of sperm factor(s) is responsible for elimination and transcriptional quiescence of fertilization-delivered sperm mtDNA.

Extensive paternal mtDNA leakage in natural populations of Drosophila melanogaster

The results indicate that evolutionary studies using mtDNA as a marker might be biased by paternal leakage in this species, and no evidence for recombination between mtDNA molecules is found, suggesting that either recombination is rare or recombinant haplotypes are counter‐selected.

The Strength and Timing of the Mitochondrial Bottleneck in Salmon Suggests a Conserved Mechanism in Vertebrates

The results confirm the presence of a mitochondrial bottleneck in fish, and show that segregation of mtDNA variation is effectively complete by the end of oogenesis, and suggest the mechanism underlying the mtDNA bottleneck is conserved in these distant vertebrates both in terms of it magnitude and timing.

The mitochondrial DNA genetic bottleneck: inheritance and beyond.

Key recent findings are reviewed, ways forward are suggested that will hopefully advance the understanding of the role of mtDNA in human disease, and how the bottleneck is controlled during development are suggested.

Revealing the hidden complexities of mtDNA inheritance

It is shown how it is possible to account for recombination and heteroplasmy in evolutionary and population analyses, but that accurate estimates of the frequencies of biparental inheritance and recombination are needed.

Selective Enrichment and Sequencing of Whole Mitochondrial Genomes in the Presence of Nuclear Encoded Mitochondrial Pseudogenes (Numts)

A novel strategy to selectively amplify mtDNA and exclude the amplification of numt sequence is presented using a combination of dilution series and nested rolling circle amplification (RCA) and successfully applied to de novo sequence the mtDNA of the Black Field Cricket Teleogryllus commodus, a species known to contain numts.

Theoretical and Statistical Approaches to Understand Human Mitochondrial DNA Heteroplasmy Inheritance

The application of population genetic theory, statistical analysis, and computational simulation help to gain understanding of human mtDNA heteroplasmy inheritance.



Estimating Mitochondrial DNA Content of Chinook Salmon Spermatozoa Using Quantitative Real-Time Polymerase Chain Reaction1

It appears that the mtDNA content may be conserved within vertebrate taxa, indicating that the reduction of mtDNA is a key factor of spermatogenesis to ensure mitochondrial functionality on the one hand, and to avoid paternal leakage at a significant or detectable level on the other hand.

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

It is shown that the partitioning of mtDNA molecules into different cells before and after implantation, followed by the segregation of replicating mtDNA between proliferating primordial germ cells, is responsible for the different levels of heteroplasmy seen in the offspring ofheteroplasmic female mice.

Evolutionary genetics: Direct evidence of recombination in human mitochondrial DNA

The direct demonstration of recombination in human mtDNA has a number of important implications; the results show that recombination between maternal and paternal mtDNA is possible, and suggest that human mitochondria have an active recombination pathway.

Mitochondrial DNA and the mammalian oocyte.

Analysis of paternal transmission of mitochondrial DNA in Drosophila.

The present results indicate that paternal leakage occurs in the intraspecific crosses as well as in the interspecific crosses in Drosophila.

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells

The mitochondrial bottleneck is not due to a drastic decline in mtDNA copy number in early oogenesis but rather to a small effective number of segregation units for mtDNA in mouse germ cells, which provides new information formtDNA segregation models and for understanding the recurrence risks for mt DNA diseases.

Rare and fleeting: an example of interspecific recombination in animal mitochondrial DNA

During a study of historical variation in Atlantic salmon (Salmo salar) mtDNA, an individual with a recombinant haplotype containing sequence from both Atlantic salmon and brown trout was detected and suggested that it was a later-generation backcross.

Paternal leakage of mitochondrial DNA in the great tit (Parus major).

Evidence is presented that paternal leakage occurs in a bird, the great tit Parus major, in the middle Amur Valley in far-eastern Siberia, where a bird that possessed the very distinct haplotypes of the two groups is found.

Selective and continuous elimination of mitochondria microinjected into mouse eggs from spermatids, but not from liver cells, occurs throughout embryogenesis.

Observations suggest that mitochondria from spermatids but not from liver have specific factors that ensure their selective elimination and resultant elimination of mtDNA in them, and that the occurrence of elimination is not limited to early stage embryos, but continues throughout embryogenesis.