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Differences between germline and somatic mutation rates in humans and mice

Author

Listed:
  • Brandon Milholland

    (Albert Einstein College of Medicine)

  • Xiao Dong

    (Albert Einstein College of Medicine)

  • Lei Zhang

    (Albert Einstein College of Medicine)

  • Xiaoxiao Hao

    (Albert Einstein College of Medicine)

  • Yousin Suh

    (Albert Einstein College of Medicine
    Albert Einstein College of Medicine
    Albert Einstein College of Medicine)

  • Jan Vijg

    (Albert Einstein College of Medicine
    Albert Einstein College of Medicine)

Abstract

The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine. Here, we present data on somatic mutation rates in mice and humans, obtained by sequencing single cells and clones derived from primary fibroblasts, which allows us to make the first direct comparison with germline mutation rates in these two species. The results indicate that the somatic mutation rate is almost two orders of magnitude higher than the germline mutation rate and that both mutation rates are significantly higher in mice than in humans. Our findings demonstrate both the privileged status of germline genome integrity and species-specific differences in genome maintenance.

Suggested Citation

  • Brandon Milholland & Xiao Dong & Lei Zhang & Xiaoxiao Hao & Yousin Suh & Jan Vijg, 2017. "Differences between germline and somatic mutation rates in humans and mice," Nature Communications, Nature, vol. 8(1), pages 1-8, August.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15183
    DOI: 10.1038/ncomms15183
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    Cited by:

    1. Wei Sun & Chong Jin & Jonathan A. Gelfond & Ming‐Hui Chen & Joseph G. Ibrahim, 2020. "Joint analysis of single‐cell and bulk tissue sequencing data to infer intratumor heterogeneity," Biometrics, The International Biometric Society, vol. 76(3), pages 983-994, September.
    2. Brian M Lang & Jack Kuipers & Benjamin Misselwitz & Niko Beerenwinkel, 2020. "Predicting colorectal cancer risk from adenoma detection via a two-type branching process model," PLOS Computational Biology, Public Library of Science, vol. 16(2), pages 1-23, February.
    3. Ashley T. Sendell-Price & Frank J. Tulenko & Mats Pettersson & Du Kang & Margo Montandon & Sylke Winkler & Kathleen Kulb & Gavin P. Naylor & Adam Phillippy & Olivier Fedrigo & Jacquelyn Mountcastle & , 2023. "Low mutation rate in epaulette sharks is consistent with a slow rate of evolution in sharks," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    4. David Lähnemann & Johannes Köster & Ute Fischer & Arndt Borkhardt & Alice C. McHardy & Alexander Schönhuth, 2021. "Accurate and scalable variant calling from single cell DNA sequencing data with ProSolo," Nature Communications, Nature, vol. 12(1), pages 1-11, December.

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