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Updated: Jun 2, 2026

High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution
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Autonomous replication activity of a human mitochondrial-DNA sequence inserted into genomic DNA.

T Nielsen1, M Piatyszek, J Shay

  • 1MCGILL UNIV,CTR CANC,MONTREAL H3G 1Y6,PQ,CANADA. UNIV TEXAS,SW MED CTR,DEPT CELL BIOL & NEUROSCI,DALLAS,TX 75235.

International Journal of Oncology
|May 12, 2011
PubMed
Summary

Mitochondrial DNA (mtDNA) insertions into nuclear DNA, like the coxIII-c-myc fusion, show autonomous replication. This suggests potential impacts on cellular DNA replication and proliferation, linking mtDNA to cancer and aging.

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Published on: February 10, 2023

Area of Science:

  • Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Mitochondrial DNA (mtDNA) fragments can integrate into nuclear DNA.
  • These integrations are implicated in aging and cancer development.
  • A specific HeLaTG cell nuclear transcript contains a fusion of mtDNA (cytochrome oxidase subunit 3, coxIII) and nuclear c-myc sequences.

Purpose of the Study:

  • To investigate the replication activity of a HeLaTG cell mtDNA insertion.
  • To determine if this insertion can replicate autonomously in mammalian cells.
  • To identify the replication origin within the fused sequence.

Main Methods:

  • Transfection of the HeLaTG mtDNA insertion into HeLa cells.
  • Utilizing a mammalian in vitro replication system.
  • Analyzing replication initiation sites within the fusion cDNA sequence.

Main Results:

  • The HeLaTG mtDNA insertion demonstrated autonomous replication activity upon transfection into HeLa cells.
  • Autonomous replication was also observed in the mammalian in vitro replication system.
  • Replication initiation in vitro was localized within the coxIII-c-myc fusion cDNA sequence.

Conclusions:

  • The HeLaTG mtDNA insertion possesses intrinsic autonomous replication capabilities.
  • The fusion sequence contains an element that can function as a replication origin.
  • Such insertions may influence cellular DNA replication and proliferation, potentially contributing to disease.