Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Highlight
  • Published:

Genome evolution

Mutations: more common than you thought

Nature Reviews Genetics volume 5, page 640 (2004)Cite this article

Access through your institution
Buy or subscribe

Previous studies have used fitness-based assays to assess the number of mutations that developed in each line, yielding an indirect estimate of mutation rate. For a more direct estimate, Denver and colleagues have now revisited a collection of these special worm lines and sequenced more than 4 Mb of loci scattered around the genome. In a recent paper in Nature, they report the total haploid genomic mutation rate to be approximately 2.1 mutations per genome per generation — an estimate that is an order of magnitude higher than previous best guesses, and 2 orders higher than the indirect estimate from the same collection (although the previous estimates referred to deleterious mutation rate, whereas these authors estimate total mutation rate). Not only that, but the more frequently observed mutations were insertions, in contrast to reports based on pseudogenes that indicated that most naturally occurring mutations in worms are deletions.

So, with one study, Denver and colleagues prompt the entire field to rethink the process of mutation over time and our measurement of it. It does not take long for this to generate controversy: in a thought-provoking News and Views piece, Rosenberg and Hastings speculate on the mechanisms at work in the Denver study. Either previous estimates were wrong because they only detected mutations that produce phenotypes, as Denver et al. would suggest, or the new study uses methods that push the worms to develop more mutations even in the absence of deleterious selection, maybe even through triggering stress-response pathways. Future studies might have to bring the worms out of their posh retirement to settle the question.

This is a preview of subscription content, access via your institution

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

ORIGINAL RESEARCH PAPER

  1. Denver, D. R. et al. High mutation rate and predominance of insertions in the Caenorhabditis elegans nuclear genome. Nature 430, 679–682 (2004)

    Article  CAS  Google Scholar 

FURTHER READING

  1. Rosenberg, S. M. & Hastings, P. J. Worming into genetic instability. Nature 430, 625–626 (2004)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Senior Editor, Nature,

    Chris Gunter

Authors
  1. Chris Gunter
    View author publications

    Search author on:PubMed Google Scholar

Related links

Related links

WEB SITE

NemATOL

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gunter, C. Mutations: more common than you thought. Nat Rev Genet 5, 640 (2004). https://doi.org/10.1038/nrg1436

Download citation

  • Issue date:

  • DOI: https://doi.org/10.1038/nrg1436

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing