Behar, Doron MBlue-Smith, JasonSoria-Hernanz, David FTzur, ShayHadid, YarinBormans, ConcettaMoen, AlexanderTyler-Smith, ChrisQuintana-Murci, LluisWells, R. SpencerSchurr, Theodore G2023-05-222023-05-222008-12-012014-11-26https://repository.upenn.edu/handle/20.500.14332/1470The 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.This is the accepted version of the following article: Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L. and Wells, R. S. (2008), A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Hum. Mutat., 29: 1387–1391. doi: 10.1002/humu.20835, which has been published in final form at http://dx.doi.org/10.1002/humu.20835mitochondrial DNAmtDNAcontrol regionreplicationAnthropologyGenetics and GenomicsLife SciencesSocial and Behavioral SciencesArticle