Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53899
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Type: Journal article
Title: A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals
Author: Behar, D.
Blue-Smith, J.
Soria-Hernanz, D.
Tzur, S.
Hadid, Y.
Bormans, C.
Moen, A.
Tyler-Smith, C.
Quintana-Murci, L.
Wells, R.
Schurr, T.
Santos, F.
Bertranpetit, J.
Comas, D.
Balanovska, E.
Balanovsky, O.
Mitchell, R.
Jin, L.
Soodyall, H.
Pitchappan, R.
et al.
Citation: Human Mutation, 2008; 29(12):1387-1391
Publisher: Wiley-Liss
Issue Date: 2008
ISSN: 1059-7794
1098-1004
Contributor: Cooper, Alan
Statement of
Responsibility: 
Doron 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
Abstract: The 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.
Keywords: mitochondrial DNA; mtDNA; control region; replication
Description: University of Adelaide consortium member: Alan Cooper
RMID: 0020084839
DOI: 10.1002/humu.20835
Appears in Collections:Australian Centre for Ancient DNA publications
Earth and Environmental Sciences publications
Environment Institute Leaders publications

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