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.

Cohesin embraces new phenotypes

Nature Genetics volume 46, pages 1157–1158 (2014)Cite this article

Subjects

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.

Ever since the early work of German biologist and cytogeneticist Walther Flemming (1843–1905) describing chromatin and mitotic chromosomes1, a critical area of investigation has been the identification of those factors that hold sister chromosomes together during the mitotic process and allow for precisely timed and accurate chromosome segregation to daughter cells at the end of mitosis. The first identification of such components—termed 'stability of mini chromosomes' and, subsequently, 'structural maintenance of chromosomes', or SMC, proteins—in yeast2,3 led to the rapid delineation of a complex of proteins termed the cohesin complex and its regulators that serve the canonical role of sister chromatid cohesion, both in meiosis and mitosis4,5. The cohesin complex effectively forms a ring-like structure that 'embraces' the sister chromatids throughout replication. Significantly knocking down or eliminating key members of the cohesin complex is in general lethal to the organism, resulting in severe defects in chromatid segregation and aneuploidy. It was therefore surprising that mutations in components of the cohesin complex result in very specific developmental disorders in humans, collectively termed cohesinopathies, suggesting that cohesin might have roles in biological processes beyond sister chromatid segregation4,5,6.

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

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

Buy

All prices are NET prices.

Figure 1: Cohesin structural and regulatory components and functions.

Katie Vicari/Nature Publishing Group

References

  1. Paweletz, N. Nat. Rev. Mol. Cell Biol. 2, 72–75 (2001).

    Article  CAS  Google Scholar 

  2. Larionov, V.L. et al. Curr. Genet. 10, 15–20 (1985).

    Article  CAS  Google Scholar 

  3. Strunnikov, A.V., Larionov, V.L. & Koshland, D. J. Cell Biol. 123, 635–648 (1993).

    Article  Google Scholar 

  4. Dorsett, D. & Merkenschlager, M. Curr. Opin. Cell Biol. 25, 327–333 (2013).

    Article  CAS  Google Scholar 

  5. Losada, A. Nat. Rev. Cancer 14, 389–393 (2014).

    Article  CAS  Google Scholar 

  6. Brooker, A.S. & Berkowitz, K.M. Methods Mol. Biol. 1170, 229–266 (2014).

    Article  Google Scholar 

  7. Chetaille, P. et al. Nat. Genet. 46, 1245–1249 (2014).

    Article  CAS  Google Scholar 

  8. Nasmyth, K. Nat. Cell Biol. 13, 1170–1177 (2011).

    Article  CAS  Google Scholar 

  9. Liu, H., Rankin, S. & Yu, H. Nat. Cell Biol. 15, 40–49 (2013).

    Article  CAS  Google Scholar 

  10. Deardorff, M.A. et al. Nature 489, 313–317 (2012).

    Article  CAS  Google Scholar 

  11. Kawauchi, S. et al. PLoS Genet. 5, e1000650 (2009).

    Article  Google Scholar 

  12. Rollins, R.A., Morcillo, P. & Dorsett, D. Genetics 152, 577–593 (1999).

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Pauli, A. et al. Curr. Biol. 20, 1787–1798 (2010).

    Article  CAS  Google Scholar 

  14. Wendt, K.S. et al. Nature 451, 796–801 (2008).

    Article  CAS  Google Scholar 

  15. Kagey, M.H. et al. Nature 467, 430–435 (2010).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Ian D. Krantz is in the Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.,

    Ian D Krantz

Authors
  1. Ian D Krantz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ian D Krantz.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Krantz, I. Cohesin embraces new phenotypes. Nat Genet 46, 1157–1158 (2014). https://doi.org/10.1038/ng.3123

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.3123

This article is cited by

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