News & Views | Published:

Enhancer mutations and phenotype modularity

Nature Genetics volume 46, pages 34 (2014) | Download Citation

Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1.

    et al. Nat. Genet. 46, 61–64 (2014).

  2. 2.

    ENCODE Project Consortium. Nature 489, 57–74 (2012).

  3. 3.

    et al. Nat. Genet. 36, 1301–1305 (2004).

  4. 4.

    , , & Hum. Mol. Genet. 17, 978–985 (2008).

  5. 5.

    et al. Nat. Genet. 40, 1348–1353 (2008).

  6. 6.

    et al. Hum. Mol. Genet. 21, 3255–3263 (2012).

  7. 7.

    et al. Nat. Genet. 41, 359–364 (2009).

  8. 8.

    et al. Nat. Genet. 41, 862–863 (2009).

  9. 9.

    et al. J. Med. Genet. 48, 825–830 (2011).

  10. 10.

    et al. Nature 444, 499–502 (2006).

  11. 11.

    , , , & Nat. Rev. Genet. 14, 288–295 (2013).

  12. 12.

    & Am. J. Hum. Genet. 76, 8–32 (2005).

  13. 13.

    , , & Ann. N.Y. Acad. Sci. 1214, 34–46 (2010).

  14. 14.

    & Clin. Genet. 84, 422–428 (2013).

  15. 15.

    et al. Genome Res. 15, 928–935 (2005).

Download references

Author information

Affiliations

  1. Christopher T. Gordon and Stanislas Lyonnet are at University Paris Descartes–Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker–Enfants Malades, Paris, France.

    • Christopher T Gordon
    •  & Stanislas Lyonnet

Authors

  1. Search for Christopher T Gordon in:

  2. Search for Stanislas Lyonnet in:

Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Stanislas Lyonnet.

About this article

Publication history

Published

DOI

https://doi.org/10.1038/ng.2861

Further reading

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