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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Transmission of human mitochondrial DNA along the paternal lineage in transmitochondrial mice
Oxana V Kidgotko1, Maria Ye Kustova, Vassilina A Sokolova
1Department of Molecular Genetics, Institute for Experimental Medicine, 12 Pavlov Street, Saint-Petersburg 197376, Russia.
Abstract:
Previously we obtained heteroplasmic mice carrying murine and human mitochondrial DNA (mtDNA). Even the fourth generation of such mice had human mtDNA in their organs, hence, they were used to study the possibility of paternal mtDNA transmission. A lineage was obtained in which human mtDNA was transmitted by males to the progeny in four successive generations. This is the first observation of such a continuous paternal transmission of mtDNA. Persistence of paternal mtDNA in several successive generations of animals suggests that mechanisms aimed at elimination of paternally inherited mtDNA species are not as strict as has been postulated.
Insights
Mice with both mouse and human mitochondrial DNA (mtDNA) showed continuous paternal transmission of human mtDNA across four generations. This challenges previous assumptions about the strictness of mechanisms eliminating paternal mtDNA.
Area of Science:
- Mitochondrial genetics
- Genetics
- Developmental biology
Background:
- Mitochondrial DNA (mtDNA) is typically maternally inherited in mammals.
- Paternal mtDNA transmission is considered rare due to active elimination mechanisms.
- Previous studies established heteroplasmic mice with both murine and human mtDNA.
Purpose of the Study:
- To investigate the possibility of paternal transmission of human mitochondrial DNA (mtDNA) in a mouse model.
- To determine if paternal mtDNA can be continuously transmitted across multiple generations.
Main Methods:
- Generation of heteroplasmic mice carrying both murine and human mtDNA.
- Longitudinal tracking of human mtDNA presence in progeny over four generations.
- Analysis of mtDNA distribution in various organs of successive generations.
Main Results:
- Human mtDNA was detected in the organs of heteroplasmic mice up to the fourth generation.
- A specific lineage exhibited continuous paternal transmission of human mtDNA across four generations.
- This represents the first documented instance of continuous paternal mtDNA transmission in a mammalian lineage.
Conclusions:
- The strictness of mechanisms eliminating paternally inherited mtDNA may be overestimated.
- Continuous paternal mtDNA transmission is possible and can persist for several generations.
- These findings open new avenues for understanding mtDNA inheritance and potential applications.
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