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dc.contributor.authorWei, Wei
dc.contributor.authorPagnamenta, Alistair T.
dc.contributor.authorGleadall, Nicholas
dc.contributor.authorSanchis-Juan, Alba
dc.contributor.authorStephens, Jonathan
dc.contributor.authorBroxholme, John
dc.contributor.authorOdhams, Christopher A.
dc.contributor.authorFratter, Carl
dc.contributor.authorCaulfield, Mark J.
dc.contributor.authorTaylor, Jenny C.
dc.contributor.authorRahman, Shamima
dc.contributor.authorAmbrose, J. C.
dc.contributor.authorBaple, E. L.
dc.contributor.authorBleda, M.
dc.contributor.authorBoardman-Pretty, F.
dc.contributor.authorBoissiere, J. M.
dc.contributor.authorBoustred, C. R.
dc.contributor.authorCaulfield, M. J.
dc.contributor.authorChan, G. C.
dc.contributor.authorCraig, C. E. H.
dc.contributor.authorDaugherty, L. C.
dc.contributor.authorde Burca, A.
dc.contributor.authorDevereau, A.
dc.contributor.authorElgar, G.
dc.contributor.authorFoulger, R. E.
dc.contributor.authorFowler, T.
dc.contributor.authorFurió-Tarí, P.
dc.contributor.authorHackett, J. M.
dc.contributor.authorHalai, D.
dc.contributor.authorHolman, J. E.
dc.contributor.authorHubbard, T. J. P.
dc.contributor.authorJackson, R.
dc.contributor.authorKasperaviciute, D.
dc.contributor.authorKayikci, M.
dc.contributor.authorLahnstein, L.
dc.contributor.authorLawson, K.
dc.contributor.authorLeigh, S. E. A.
dc.contributor.authorLeong, I. U. S.
dc.contributor.authorLopez, F. J.
dc.contributor.authorMaleady-Crowe, F.
dc.contributor.authorMason, J.
dc.contributor.authorMcDonagh, E. M.
dc.contributor.authorMoutsianas, L.
dc.contributor.authorMueller, M.
dc.contributor.authorMurugaesu, N.
dc.contributor.authorNeed, A. C.
dc.contributor.authorOdhams, C. A.
dc.contributor.authorPatch, C.
dc.contributor.authorPerez-Gil, D.
dc.contributor.authorPolychronopoulos, D.
dc.contributor.authorPullinger, J.
dc.contributor.authorRahim, T.
dc.contributor.authorRendon, A.
dc.contributor.authorRiesgo-Ferreiro, P.
dc.contributor.authorRogers, T.
dc.contributor.authorRyten, M.
dc.contributor.authorSavage, K.
dc.contributor.authorSawant, K.
dc.contributor.authorScott, R. H.
dc.contributor.authorSiddiq, A.
dc.contributor.authorSieghart, A.
dc.contributor.authorSmedley, D.
dc.contributor.authorSmith, K. R.
dc.contributor.authorSosinsky, A.
dc.contributor.authorSpooner, W.
dc.contributor.authorStevens, H. E.
dc.contributor.authorStuckey, A.
dc.contributor.authorSultana, R.
dc.contributor.authorThomas, E. R. A.
dc.contributor.authorThompson, S. R.
dc.contributor.authorTregidgo, C.
dc.contributor.authorTucci, A.
dc.contributor.authorWalsh, E.
dc.contributor.authorWatters, S. A.
dc.contributor.authorWelland, M. J.
dc.contributor.authorWilliams, E.
dc.contributor.authorWitkowska, K.
dc.contributor.authorWood, S. M.
dc.contributor.authorZarowiecki, M.
dc.contributor.authorTuna, Salih
dc.contributor.authorTurro, Ernest
dc.contributor.authorChinnery, Patrick F.
dc.date.accessioned2021-04-08T15:32:18Z
dc.date.available2021-04-08T15:32:18Z
dc.date.issued2020-04-08
dc.date.submitted2019-07-10
dc.identifier.others41467-020-15336-3
dc.identifier.other15336
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/319584
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherNature Publishing Group UK
dc.subjectArticle
dc.subject/631/208/2156
dc.subject/631/208/726/649
dc.subject/631/208/726/2129
dc.subject/45
dc.subject/45/23
dc.subjectarticle
dc.titleNuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
dc.typeArticle
dc.date.updated2021-04-08T15:32:17Z
prism.issueIdentifier1
prism.publicationNameNature Communications
prism.volume11
dc.identifier.doi10.17863/CAM.66704
dcterms.dateAccepted2020-02-03
rioxxterms.versionofrecord10.1038/s41467-020-15336-3
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidWei, Wei [0000-0002-2945-3543]
dc.contributor.orcidPagnamenta, Alistair T. [0000-0001-7334-0602]
dc.contributor.orcidTuna, Salih [0000-0003-3606-4367]
dc.contributor.orcidFratter, Carl [0000-0001-7125-5391]
dc.contributor.orcidTurro, Ernest [0000-0002-1820-6563]
dc.contributor.orcidCaulfield, Mark J. [0000-0001-9295-3594]
dc.contributor.orcidRahman, Shamima [0000-0003-2088-730X]
dc.identifier.eissn2041-1723


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