期刊
NATURE COMMUNICATIONS
卷 11, 期 1, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-020-15336-3
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资金
- National Institute for Health Research
- NHS England
- Wellcome Trust [203141/Z/16/Z]
- Cancer Research UK
- Medical Research Council
- Medical Research Council Mitochondrial Biology Unit [MC_UU_00015/9]
- Evelyn Trust
- National Institute for Health Research (NIHR) Biomedical Research Centre
- University of Cambridge
- NIHR Biomedical Research Centre Oxford
- Department of Health's NIHR Biomedical Research Centre's funding scheme
- MRC [MR/M009203/1, MC_UU_00015/9, MC_EX_MR/M009203/1, MC_PC_14089] Funding Source: UKRI
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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