Skip to main content

Thank you for visiting 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.

  • Comment
  • Published:

Mutation load is the spectre of species conservation

Genomic regions conserved during evolution are important, but they have been ignored in conservation genetics. Managing deleterious mutations in such ultraconserved elements by genomics-informed conservation would make populations more resilient to future genetic drift.

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

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

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

Fig. 1: The segregation load and drift load in conservation.


  1. The Strategic Plan for Biodiversity 2011–2020 and the Aichi Biodiversity Targets (CBD, 2010);

  2. IPBES Global Assessment Report on Biodiversity and Ecosystem Services (IPBES Secretariat, 2019);

  3. IUCN Red List of Threatened Species Version 2020-1 (IUCN, 2020);

  4. Egler, H.-P. & Frazao, R. Sustainable Infrastructure and Finance: How to Contribute to a Sustainable Future Working Paper 16/09 (UNEP, 2016).

  5. Frankel, O. H. Proc. Linn. Soc. New South Wales 95, 158–169 (1970).

    Google Scholar 

  6. Frankel, O. H. Genetics 78, 53–65 (1974).

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Brüniche-Olsen, A., Kellner, K. F. & DeWoody, J. A. Mol. Ecol. 28, 4914–4925 (2019).

    Article  PubMed  Google Scholar 

  8. Pereira, H. M. et al. Science 339, 277–278 (2013).

    Article  CAS  PubMed  Google Scholar 

  9. Bejerano, G. et al. Science 304, 1321–1325 (2004).

    Article  CAS  PubMed  Google Scholar 

  10. Chen, C. T., Wang, J. C. & Cohen, B. A. Am. J. Hum. Genet. 80, 692–704 (2007).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. van der Valk, T., de Manuel, M., Marques-Bonet, T. & Guschansk, K. Preprint at bioRxiv (2019).

  12. Morton, N. E., Crow, J. F. & Muller, H. J. Proc. Natl Acad. Sci. USA 42, 855–863 (1956).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. O’Grady, J. J. et al. Biol. Conserv. 133, 42–51 (2006).

    Article  Google Scholar 

  14. Grossen, C., Guillaume, F., Keller, L. F. & Croll, D. Nat. Commun. 11, 1001 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Gross, C. et al. Preprint at bioRxiv (2020).

  16. Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J. & Kircher, M. Nucleic Acids Res. 47, 886–894 (2019).

    Article  Google Scholar 

  17. Goode, D. L. et al. Genome Res. 20, 301–310 (2010).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Cooper, G. M. et al. Nat. Methods 7, 250–251 (2010).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Li, H. & Durbin, R. Nature 475, 493–496 (2011).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Díez-del-Molino, D., Sánchez-Barreiro, F., Barnes, I., Gilbert, M. T. & Dalén, L. Trends Ecol. Evol. 33, 176–185 (2018).

    Article  PubMed  Google Scholar 

  21. Wright, S. Genetics 16, 97–159 (1931).

    CAS  PubMed  PubMed Central  Google Scholar 

  22. Kimura, M. & Crow, J. F. Genet. Res. 13, 127–141 (1969).

    Article  CAS  PubMed  Google Scholar 

  23. Kyriazis, C. C., Wayne, R. K. & Lohmueller, K. E. Preprint at bioRxiv

Download references


I thank H. Morales, K. Norris, J. Groombridge, L. Spurgin, J. Lighten, C. Ryan, C. Bortoluzzi, M. Bosse and members of the Conservation Genetics Specialist Group of the IUCN for their comments on the manuscript and stimulating discussions.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Cock van Oosterhout.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

van Oosterhout, C. Mutation load is the spectre of species conservation. Nat Ecol Evol 4, 1004–1006 (2020).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


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