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

  1. Doron M. Behar1,*,
  2. Jason Blue-Smith2,
  3. David F. Soria-Hernanz2,
  4. Shay Tzur1,
  5. Yarin Hadid1,
  6. Concetta Bormans3,
  7. Alexander Moen2,
  8. Chris Tyler-Smith4,
  9. Lluis Quintana-Murci5,
  10. R. Spencer Wells2,*

Article first published online: 15 JUL 2008

DOI: 10.1002/humu.20835

Issue

Human Mutation

Human Mutation

Volume 29, Issue 12, pages 1387–1391, December 2008

Additional Information

How to Cite

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. Human Mutation, 29: 1387–1391. doi: 10.1002/humu.20835

Author Information

  1. 1

    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel

  2. 2

    Mission Programs, National Geographic Society, Washington, DC

  3. 3

    Genomics Research Center, Family Tree DNA, Houston, Texas

  4. 4

    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom

  5. 5

    Unit of Human Evolutionary Genetics, CNRS URA3012, Institut Pasteur, Paris, France

*Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel

  1. †

    Communicated by Henrik Dahl

Publication History

  1. Issue published online: 21 NOV 2008
  2. Article first published online: 15 JUL 2008
  3. Manuscript Accepted: 8 MAY 2008
  4. Manuscript Received: 26 MAR 2008

Funded by

  • National Geographic Society
  • IBM
  • Waitt Family Foundation
  • Seaver Family Foundation
  • Family Tree DNA
  • Wellcome Trust

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Keywords:

  • mitochondrial DNA;
  • mtDNA;
  • control region;
  • replication

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. Hum Mutat 0,1–5, 2008. © 2008 Wiley-Liss, Inc.

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