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:

Is Rett syndrome a loss-of-imprinting disorder?

Most cases of Rett syndrome are caused by mutations in MECP2. Transcriptional profiling analyses of the brains of individuals with Rett syndrome have not provided consistent data about genes that are silenced by MECP2. A new study finds loss of imprinting of a maternally imprinted gene, DLX5, both in Mecp2-null mice and in some lymphoblastoid cell lines obtained from individuals with Rett syndrome.

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

References

  1. Renieri, A. et al. J. Mol. Med. 81, 346–354 (2003).

    Article  Google Scholar 

  2. D'Esposito, M. et al. Mamm. Genome 7, 533–535 (1996).

    Article  CAS  Google Scholar 

  3. Colantuoni, C. et al. Neurobiol. Dis. 8, 847–865 (2001).

    Article  CAS  Google Scholar 

  4. Johnston, M., Jeon, O., Pevsner, J., Blue, M. & Naidu, S. Brain Dev. Suppl 1, S206–S213 (2001).

  5. Traynor, J., Agarwal, P., Lazzeroni, L. & Francke, U. BMC Med. Genet. 3, 12 (2002).

    Article  Google Scholar 

  6. Tudor, M., Akbarian, S., Chen, R. & Jaenisch, R. Proc. Natl. Acad. Sci. USA 99, 15536–15541 (2002).

    Article  CAS  Google Scholar 

  7. Horike, S., Cai, S., Miyano, M., Cheng, J.-F. & Kohwi-Shigematsu, T. Nat. Genet. 37, 31–40 (2005).

    Article  CAS  Google Scholar 

  8. Balmer, D., Arredondo, J., Samaco, R.C. & LaSalle, J.M. Hum. Genet. 110, 545–552 (2002).

    Article  CAS  Google Scholar 

  9. Chen, W.G. et al. Science 302, 885–889 (2003).

    Article  CAS  Google Scholar 

  10. Raymond, F., Lakshmi, R., Xue, L. & Thomas, L. Genes Dev. 16, 1089–1101 (2002).

    Article  Google Scholar 

  11. Perera, M. et al. Mol. Cell. Neurosci. 25, 153–161 (2004).

    Article  CAS  Google Scholar 

  12. Stuhmer, T., Anderson, S.A., Ekker, M. & Rubenstein, J.L. Development 129, 245–252 (2002).

    CAS  PubMed  Google Scholar 

  13. Yamashita, Y. et al. J. Neurol. Sci. 154, 146–150 (1998).

    Article  CAS  Google Scholar 

  14. Blue, M.E., Naidu, S. & Johnston, M.V. Exp. Neurol. 156, 345–352 (1999).

    Article  CAS  Google Scholar 

  15. Scala, E. et al. J. Med. Genet. (in the press).

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pescucci, C., Meloni, I. & Renieri, A. Is Rett syndrome a loss-of-imprinting disorder?. Nat Genet 37, 10–11 (2005). https://doi.org/10.1038/ng0105-10

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0105-10

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