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

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, Jenny C. Taylor, Shamima Rahman and Patrick F. Chinnery ()
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Wei Wei: University of Cambridge, Cambridge Biomedical Campus
Alistair T. Pagnamenta: University of Oxford
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
Mark J. Caulfield: Genomics England
Jenny C. Taylor: University of Oxford
Shamima Rahman: Great Ormond Street Hospital for Children NHS Foundation Trust
Patrick F. Chinnery: University of Cambridge, Cambridge Biomedical Campus

Nature Communications, 2020, vol. 11, issue 1, 1-11

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-15336-3

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