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Heteroplasmic mitochondrial DNA mutations in normal and tumour cells.

Publication ,  Journal Article
He, Y; Wu, J; Dressman, DC; Iacobuzio-Donahue, C; Markowitz, SD; Velculescu, VE; Diaz, LA; Kinzler, KW; Vogelstein, B; Papadopoulos, N
Published in: Nature
March 25, 2010

The presence of hundreds of copies of mitochondrial DNA (mtDNA) in each human cell poses a challenge for the complete characterization of mtDNA genomes by conventional sequencing technologies. Here we describe digital sequencing of mtDNA genomes with the use of massively parallel sequencing-by-synthesis approaches. Although the mtDNA of human cells is considered to be homogeneous, we found widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells. Moreover, the frequency of heteroplasmic variants varied considerably between different tissues in the same individual. In addition to the variants identified in normal tissues, cancer cells harboured further homoplasmic and heteroplasmic mutations that could also be detected in patient plasma. These studies provide insights into the nature and variability of mtDNA sequences and have implications for mitochondrial processes during embryogenesis, cancer biomarker development and forensic analysis. In particular, they demonstrate that individual humans are characterized by a complex mixture of related mitochondrial genotypes rather than a single genotype.

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Published In

Nature

DOI

EISSN

1476-4687

Publication Date

March 25, 2010

Volume

464

Issue

7288

Start / End Page

610 / 614

Location

England

Related Subject Headings

  • Mutation
  • Middle Aged
  • Male
  • Intestinal Mucosa
  • Humans
  • Genotype
  • Genetic Variation
  • Genetic Heterogeneity
  • General Science & Technology
  • Gene Frequency
 

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He, Y., Wu, J., Dressman, D. C., Iacobuzio-Donahue, C., Markowitz, S. D., Velculescu, V. E., … Papadopoulos, N. (2010). Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature, 464(7288), 610–614. https://doi.org/10.1038/nature08802
He, Yiping, Jian Wu, Devin C. Dressman, Christine Iacobuzio-Donahue, Sanford D. Markowitz, Victor E. Velculescu, Luis A. Diaz, Kenneth W. Kinzler, Bert Vogelstein, and Nickolas Papadopoulos. “Heteroplasmic mitochondrial DNA mutations in normal and tumour cells.Nature 464, no. 7288 (March 25, 2010): 610–14. https://doi.org/10.1038/nature08802.
He Y, Wu J, Dressman DC, Iacobuzio-Donahue C, Markowitz SD, Velculescu VE, et al. Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature. 2010 Mar 25;464(7288):610–4.
He, Yiping, et al. “Heteroplasmic mitochondrial DNA mutations in normal and tumour cells.Nature, vol. 464, no. 7288, Mar. 2010, pp. 610–14. Pubmed, doi:10.1038/nature08802.
He Y, Wu J, Dressman DC, Iacobuzio-Donahue C, Markowitz SD, Velculescu VE, Diaz LA, Kinzler KW, Vogelstein B, Papadopoulos N. Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature. 2010 Mar 25;464(7288):610–614.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

March 25, 2010

Volume

464

Issue

7288

Start / End Page

610 / 614

Location

England

Related Subject Headings

  • Mutation
  • Middle Aged
  • Male
  • Intestinal Mucosa
  • Humans
  • Genotype
  • Genetic Variation
  • Genetic Heterogeneity
  • General Science & Technology
  • Gene Frequency