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Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

Author

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  • Yiping He

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Jian Wu

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Devin C. Dressman

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Christine Iacobuzio-Donahue

    (Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA)

  • Sanford D. Markowitz

    (and Ireland Cancer Center, at Case Western Reserve University and Case Medical Center of University Hospitals of Cleveland, and The Howard Hughes Medical Institute, Cleveland, Ohio 44106, USA)

  • Victor E. Velculescu

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Luis A. Diaz Jr

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Kenneth W. Kinzler

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Bert Vogelstein

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

  • Nickolas Papadopoulos

    (The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA)

Abstract

Heterogeneity in mitochondrial DNA With the help of massively parallel sequencing-by-synthesis of mitochondrial DNA (mtDNA) genomes, He et al. uncover widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells and homoplasmic and heteroplasmic mutations in cancer cells. The frequency of heteroplasmy is shown to vary among tissues of the same individual. Together, these findings provide new insights into the nature and variability of mtDNA sequences and have implications for cancer biomarker development and forensic analysis.

Suggested Citation

  • Yiping He & Jian Wu & Devin C. Dressman & Christine Iacobuzio-Donahue & Sanford D. Markowitz & Victor E. Velculescu & Luis A. Diaz Jr & Kenneth W. Kinzler & Bert Vogelstein & Nickolas Papadopoulos, 2010. "Heteroplasmic mitochondrial DNA mutations in normal and tumour cells," Nature, Nature, vol. 464(7288), pages 610-614, March.
    • Handle: RePEc:nat:nature:v:464:y:2010:i:7288:d:10.1038_nature08802
    DOI: 10.1038/nature08802
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    Cited by:

    1. Ieva Keraite & Philipp Becker & Davide Canevazzi & Cristina Frias-López & Marc Dabad & Raúl Tonda-Hernandez & Ida Paramonov & Matthew John Ingham & Isabelle Brun-Heath & Jordi Leno & Anna Abulí & Elen, 2022. "A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    2. Yanan Li & Yonghua Wu & Ru Xu & Jialing Guo & Fenglei Quan & Yongyuan Zhang & Di Huang & Yiran Pei & Hua Gao & Wei Liu & Junjie Liu & Zhenzhong Zhang & Ruijie Deng & Jinjin Shi & Kaixiang Zhang, 2023. "In vivo imaging of mitochondrial DNA mutations using an integrated nano Cas12a sensor," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    3. Manja Wachsmuth & Alexander Hübner & Mingkun Li & Burkhard Madea & Mark Stoneking, 2016. "Age-Related and Heteroplasmy-Related Variation in Human mtDNA Copy Number," PLOS Genetics, Public Library of Science, vol. 12(3), pages 1-21, March.

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