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

@article{Behar2008AN1,
  title={A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.},
  author={Doron M Behar and Jason Blue-Smith and David F. Soria-Hernanz and Shay Tzur and Yarin Hadid and Concetta Bormans and Alexander Moen and Chris Tyler-Smith and Llu{\'i}s Quintana-Murci and Randall S. Wells},
  journal={Human mutation},
  year={2008},
  volume={29 12},
  pages={1387-91}
}
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… CONTINUE READING

References

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The Genographic Project public participation mitochondrial DNA database

  • DM Behar, S Rosset, +7 authors RS. Wells
  • PLoS Genet 3:e104.
  • 2007
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