Mitochondrial genome articles within Nature

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  • Article |

    Nuclear genome transfer using unfertilized donor oocytes is performed and shown to be effective in preventing the transmission of mitochondrial DNA mutations; the swapped oocytes can develop to the blastocyst stage, and produce parthenogenetic embryonic stem-cell lines that show normal karyotypes and only mitochondrial DNA from the donor oocyte.

    • Daniel Paull
    • , Valentina Emmanuele
    •  & Dieter Egli

  • Article |

    Mutations in mitochondrial DNA cause a wide range of disorders in humans, with a high prevalence; here it is shown that the nucleus of an affected woman’s egg could be inserted into healthy donor egg cytoplasm by spindle transfer, allowing the birth of healthy offspring.

    • Masahito Tachibana
    • , Paula Amato
    •  & Shoukhrat Mitalipov

  • Letter |

    In the nucleus, a complex of DNA ligase III (Lig3) and Xrcc1 catalyses the last step of base excision repair. Inactivation of Lig3 in the mouse leads to early embryonic lethality, but the critical role played by Lig3 in viability is unknown. This study shows, using conditional knockouts of Lig3 in the nervous system and cardiac muscle, that its essential function is maintenance of mitochondrial DNA integrity. The results also indicate distinct functional roles for Lig3 and Xrcc1.

    • Yankun Gao
    • , Sachin Katyal
    •  & Peter J. McKinnon

  • Letter |

    Mutations in mitochondrial DNA (mtDNA) are a common cause of human genetic disease. It has been shown in non-human primates that nuclear transfer techniques might be an approach to prevent the transmission of mtDNA mutations. The proof of principle has now been extended to human embryos. Pronuclei were transferred between human zygotes, which developed onwards to the blastocyst stage in vitro. Carry-over of mtDNA from the donor zygotes to the recipients was minimal.

    • Lyndsey Craven
    • , Helen A. Tuppen
    •  & Douglass M. Turnbull

  • Letter
    | Open Access

    Ancient mitochondrial DNA from a hominin individual who lived in the mountains of Central Asia between 48,000–30,000 years ago has been sequenced. Comparative genomics suggest that this mitochondrial DNA derives from an out-of-Africa migration distinct from the ones that gave rise to Neanderthals and modern humans. It also seems that this hominin lived in close spatio-temporal proximity to Neanderthals and modern humans.

    • Johannes Krause
    • , Qiaomei Fu
    •  & Svante Pääbo

  • Letter |

    Severe trauma can lead to death and sepsis in the absence of apparent infection. Here evidence shows that mitochondrial debris, released from damaged cells, is present in the circulation of seriously injured trauma patients. Such debris is shown to activate neutrophils via specific formyl peptide receptors, triggering systemic inflammation and end organ injury.

    • Qin Zhang
    • , Mustafa Raoof
    •  & Carl J. Hauser

  • Letter |

    Each human cell contains hundreds of copies of mitochondrial DNA (mtDNA), making it difficult to characterize mtDNA completely. Here, massively parallel sequencing-by-synthesis of mtDNA reveals widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells, and homoplasmic and heteroplasmic mutations in cancer cells. The findings provide new insight into the nature and variability of mtDNA sequences, with implications for forensic analysis and the development of biomarkers for cancer.

    • Yiping He
    • , Jian Wu
    •  & Nickolas Papadopoulos

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