A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

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dc.contributor.authorBehar, D.
dc.contributor.authorBlue-Smith, J.
dc.contributor.authorSoria-Hernanz, D.
dc.contributor.authorTzur, S.
dc.contributor.authorHadid, Y.
dc.contributor.authorBormans, C.
dc.contributor.authorMoen, A.
dc.contributor.authorTyler-Smith, C.
dc.contributor.authorQuintana-Murci, L.
dc.contributor.authorWells, R.
dc.contributor.authorSchurr, T.
dc.contributor.authorSantos, F.
dc.contributor.authorBertranpetit, J.
dc.contributor.authorComas, D.
dc.contributor.authorBalanovska, E.
dc.contributor.authorBalanovsky, O.
dc.contributor.authorMitchell, R.
dc.contributor.authorJin, L.
dc.contributor.authorSoodyall, H.
dc.contributor.authorPitchappan, R.
dc.contributor.authoret al.
dc.contributor.otherCooper, Alan
dc.date.issued2008
dc.descriptionUniversity of Adelaide consortium member: Alan Cooper
dc.description.abstractThe biological role of the mitochondrial DNA (mtDNA) control region in mtDNA replication remains unclear. In a worldwide survey of mtDNA variation in the general population, we have identified a novel large control region deletion spanning positions 16154 to 16307 (m.16154_16307del154). The population prevalence of this deletion is low, since it was only observed in 1 out of over 120,000 mtDNA genomes studied. The deletion is present in a nonheteroplasmic state, and was transmitted by a mother to her two sons with no apparent past or present disease conditions. The identification of this large deletion in healthy individuals challenges the current view of the control region as playing a crucial role in the regulation of mtDNA replication, and supports the existence of a more complex system of multiple or epigenetically-determined replication origins.
dc.description.statementofresponsibilityDoron M. Behar, Jason Blue-Smith, David F. Soria-Hernanz, Shay Tzur, Yarin Hadid, Concetta Bormans, Alexander Moen, Chris Tyler-Smith, Lluis Quintana-Murci, R. Spencer Wells, The Genographic Consortium
dc.identifier.citationHuman Mutation, 2008; 29(12):1387-1391
dc.identifier.doi10.1002/humu.20835
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.urihttp://hdl.handle.net/2440/53899
dc.language.isoen
dc.publisherWiley-Liss
dc.source.urihttps://doi.org/10.1002/humu.20835
dc.subjectmitochondrial DNA
dc.subjectmtDNA
dc.subjectcontrol region
dc.subjectreplication
dc.titleA novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals
dc.typeJournal article
pubs.publication-statusPublished

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