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

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, Theodore G. Schurr, Fabricio R. Santos, Jaume Bertranpetit, David Comas, Elena Balanovska, Oleg Balanovsky, R. John Mitchell, Li Jin, Himla Soodyall, Ramasamy PitchappanAlan Cooper, Ajay K. Royyuru, Saharon Rosset, Laxmi Parida, David Soria Hernanz

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1387-1391
Number of pages5
JournalHuman Mutation
Issue number12
StatePublished - Dec 2008


  • Control region
  • Mitochondrial DNA
  • Replication
  • mtDNA


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