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.

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

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

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

Notes

  1. 1.

    See all news & views

References

  1. 1

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

    ADS  CAS  Article  Google Scholar 

  2. 2

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

    CAS  Article  Google Scholar 

  3. 3

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

    PubMed  PubMed Central  Google Scholar 

  4. 4

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

    ADS  CAS  Article  Google Scholar 

  5. 5

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

    ADS  CAS  Article  Google Scholar 

  6. 6

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

    CAS  Article  Google Scholar 

  7. 7

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

  8. 8

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

  9. 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

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

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

Further reading

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