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:

Genomic imprinting Disomy and disease resolved?

Nature volume 389, pages 785–787 (1997)Cite this article

Why is it that babies with two doses of chromosome 11p15 from their father — instead of one from each parent — have disproportionate overgrowth of organs such as tongue, muscles, kidney, liver and heart1,2? This is the so-called Beckwith-Wiedemann syndrome (BWS)3, and other symptoms include omphalocele (an abdominal-wall defect), thickening of long bones, renal dysplasia (abnormal growth), adrenal cytomegaly and polyhydramnios (excess amniotic fluid).

On page 809 of this issue, Sun et al.4 report that they have used a transgenic-mouse approach to provide convincing evidence that some, but not all, of these problems arise because the children have double the normal dose of insulin-like growth factor-2 (IGF2). The IGF2 gene on chromosome 11p15 is remarkable in that it is imprinted — in other words, only one of the two parental copies is normally active. In this case, the paternal copy is active whereas the maternal gene is silent in most tissues. So a baby with a paternal duplication of chromosome 11 would be expected to have a double dose of the protein.

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

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

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

Figure 1: Clinical overlap and possible interactions between genes involved in Beckwith-Wiedemann syndrome and Simpson-GolabiBehmel syndrome (SGBS).

J. H. HOLTZ & S. A. ASHER

References

  1. Henry, I.et al. Nature 351, 665–667 (1991).

    Article  ADS  CAS  Google Scholar 

  2. Little, M., Van Heyningen, V. & Hastie, N. Nature 351, 609–610 (1991).

    Article  ADS  CAS  Google Scholar 

  3. Reik, W. & Maher, E. R. Trends Genet. 13, 330–335 (1997).

    Google Scholar 

  4. Sun, F.-L., Dean, W. L., Kelsey, G., Allen, N. D. & Reik, W. Nature 389, 809–815 (1997).

    Article  ADS  CAS  Google Scholar 

  5. Leighton, P. A., Ingram, R. S., Eggenschwiler, J., Efstratiadis A. & Tilghman, S. M. Nature 375, 34–37 (1995).

    Article  ADS  CAS  Google Scholar 

  6. DeChiara, T. M., Efstratiadis, A. & Robertson, E. J. Nature 345, 78–81 (1990).

    Article  ADS  CAS  Google Scholar 

  7. Weksberg, R., Shen, D. R., Fei, Y. L., Song, Q. L. & Squire, J. Nature Genet. 5, 143–149 (1993).

    Google Scholar 

  8. Zhang, P.et al. Nature 387, 151–158 (1997).

    Article  ADS  CAS  Google Scholar 

  9. Yan, Y., Frisen, J., Lee, M.-H., Masague, J. & Barbacid, M. Genes Dev.11, 973–983 (1997).

    Google Scholar 

  10. Hatada, I.et al. Nature Genet. 14, 171–173 (1996).

    Google Scholar 

  11. O'Keefe, D.et al. Am. J. Hum. Genet. 61, 295–303 (1997).

    Google Scholar 

  12. Lee, M. P.et al. Am. J. Hum. Genet. 61, 304–309 (1997).

    Google Scholar 

  13. Eggenschwiler, J. et al. (in the press).

  14. Weksberg, R., Squire, J. A. & Templeton, D. M. Nature Genet. 12, 225–227 (1996).

    Google Scholar 

  15. Pilia, G.et al. Nature Genet. 12, 241–247 (1996).

    Google Scholar 

  16. Song, H. H., Shi, W. & Filmus, J. J. Biol. Chem. 272, 7574–7577 (1997).

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. the MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK

    Nicholas Hastie

Authors
  1. Nicholas Hastie
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hastie, N. Genomic imprinting Disomy and disease resolved?. Nature 389, 785–787 (1997). https://doi.org/10.1038/39732

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/39732

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