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Wei, Wei; Pagnamenta, Alistair T; Gleadall, Nicholas; Sanchis-Juan, Alba; Stephens, Jonathan; Broxholme, John; Tuna, Salih; Odhams, Christopher A; Fratter, Carl; Turro, Ernest; Caulfield, Mark J; Taylor, Jenny C; Rahman, Shamima; Chinnery, Patrick F
Nature communications, 04/2020, Letnik: 11, Številka: 1Journal Article
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.
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in: SICRIS
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