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.

  • News & Views
  • Published:

Biomedicine

Human genes lost and their functions found

Individuals who lack a functional copy of a gene — gene knockouts — can reveal the gene's role. Most knockout research has used model organisms, but now a comprehensive catalogue of human knockouts is in sight. See Letter p.235

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

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

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

Figure 1: A road map for identifying and studying the absence of human genes in individuals.

Notes

  1. See all news & views

References

  1. Saleheen, D. et al. Nature 544, 235–239 (2017).

    Article  ADS  CAS  Google Scholar 

  2. Lek, M. et al. Nature 536, 285–291 (2016).

    Article  CAS  Google Scholar 

  3. Saleheen, D. et al. Eur. J. Epidemiol. 24, 329–338 (2009).

    PubMed  PubMed Central  Google Scholar 

  4. Narasimhan, V. M. et al. Science 352, 474–477 (2016).

    Article  ADS  CAS  Google Scholar 

  5. Sulem, P. et al. Nature Genet. 47, 448–452 (2015).

    Article  ADS  CAS  Google Scholar 

  6. Steinberg, S. et al. Nature Genet. 47, 445–447 (2015).

    Article  CAS  Google Scholar 

  7. The Lp-PLA2 Studies Collaboration. Lancet 375, 1536–1544 (2010).

  8. The TG and HDL Working Group of the Exome Sequencing Project. N. Engl. J. Med. 371, 22–31 (2014).

  9. Jørgensen, A. B., Frikke-Schmidt, R., Nordestgaard, B. G. & Tybjærg-Hansen, A. N. Engl. J. Med. 371, 32–41 (2014)

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Robert M. Plenge.

Ethics declarations

Competing interests

The author declares competing financial interests. See go.nature.com/2p1srjx for details.

Related audio

Related links

Related links

Related links in Nature Research

Human genomics: A deep dive into genetic variation

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Plenge, R. Human genes lost and their functions found. Nature 544, 171–172 (2017). https://doi.org/10.1038/544171a

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/544171a

This article is cited by

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