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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Author

Listed:
  • Wei Wei

    (University of Cambridge, Cambridge Biomedical Campus
    University of Cambridge, Cambridge Biomedical Campus)

  • Alistair T. Pagnamenta

    (University of Oxford
    National Institute for Health Research (NIHR) Oxford Biomedical Research Centre)

  • Nicholas Gleadall

    (University of Cambridge, Cambridge Biomedical Campus)

  • Alba Sanchis-Juan

    (University of Cambridge, Cambridge Biomedical Campus)

  • Jonathan Stephens

    (University of Cambridge, Cambridge Biomedical Campus)

  • John Broxholme

    (University of Oxford)

  • Salih Tuna

    (University of Cambridge, Cambridge Biomedical Campus)

  • Christopher A. Odhams

    (Genomics England)

  • Carl Fratter

    (Oxford University Hospitals NHS Foundation Trust, Churchill Hospital)

  • Ernest Turro

    (University of Cambridge, Cambridge Biomedical Campus
    University of Cambridge)

  • Mark J. Caulfield

    (Genomics England
    Queen Mary University of London)

  • Jenny C. Taylor

    (University of Oxford
    National Institute for Health Research (NIHR) Oxford Biomedical Research Centre)

  • Shamima Rahman

    (Great Ormond Street Hospital for Children NHS Foundation Trust
    UCL Great Ormond Street Institute of Child Health)

  • Patrick F. Chinnery

    (University of Cambridge, Cambridge Biomedical Campus
    University of Cambridge, Cambridge Biomedical Campus)

Abstract

Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent with biparental transmission. Here we report a similar genetic signature in 7 of 11,035 trios, with allelic fractions of 5–25%, implying biparental inheritance of mtDNA in 0.06% of offspring. However, analysing the nuclear whole genome sequence, we observe likely large rare or unique nuclear-mitochondrial DNA segments (mega-NUMTs) transmitted from the father in all 7 families. Independently detecting mega-NUMTs in 0.13% of fathers, we see autosomal transmission of the haplotype. Finally, we show the haplotype allele fraction can be explained by complex concatenated mtDNA-derived sequences rearranged within the nuclear genome. We conclude that rare cryptic mega-NUMTs can resemble paternally mtDNA heteroplasmy, but find no evidence of paternal transmission of mtDNA in humans.

Suggested Citation

  • Wei Wei & Alistair T. Pagnamenta & Nicholas Gleadall & Alba Sanchis-Juan & Jonathan Stephens & John Broxholme & Salih Tuna & Christopher A. Odhams & Carl Fratter & Ernest Turro & Mark J. Caulfield & J, 2020. "Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans," Nature Communications, Nature, vol. 11(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-15336-3
    DOI: 10.1038/s41467-020-15336-3
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    Cited by:

    1. Yang Yu & Xin Wang & Jordan Fox & Ruofan Yu & Pilendra Thakre & Brenna McCauley & Nicolas Nikoloutsos & Yang Yu & Qian Li & P. J. Hastings & Weiwei Dang & Kaifu Chen & Grzegorz Ira, 2024. "Yeast EndoG prevents genome instability by degrading extranuclear DNA species," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    2. Jinchun Wu & Yang Liu & Liqiong Ou & Tingting Gan & Zhengrong Zhangding & Shaopeng Yuan & Xinyi Liu & Mengzhu Liu & Jiasheng Li & Jianhang Yin & Changchang Xin & Ye Tian & Jiazhi Hu, 2024. "Transfer of mitochondrial DNA into the nuclear genome during induced DNA breaks," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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