Multiomic analyses in an individual with severe, early-onset obesity, followed by targeted screening in additional patients identifies a tandem duplication at the ASIP gene (encoding agouti-signalling protein) as a novel cause of monogenic obesity, with implications for genetic diagnosis of obesity.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 digital issues and online access to articles
$119.00 per year
only $9.92 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Tam, V., Turcotte, M. & Meyre, D. Obes. Rev. 20, 212–240 (2019).
Bultman, S. J., Michaud, E. J. & Woychik, R. P. Cell 71, 1195–1204 (1992).
Duhl, D. M., Vrieling, H., Miller, K. A., Wolff, G. L. & Barsh, G. S. Nat. Genet. 8, 59–65 (1994).
Moussa, N. M. & Claycombe, K. J. Obes. Res. 7, 506–514 (1999).
Le Pape, E., Wakamatsu, K., Ito, S., Wolber, R. & Hearing, V. J. Pigment Cell Melanoma Res. 21, 477–486 (2008).
Kempf, E. et al. Nat. Metab. https://doi.org/10.1038/s42255-022-00703-9 (2022).
Baric, I. et al. Proc. Natl Acad. Sci. USA 101, 4234–4239 (2004).
Walters, R. G. et al. Nature 463, 671–675 (2010).
Montagne, L. et al. Mol. Metab. 13, 1–9 (2018).
Chami, N., Preuss, M., Walker, R. W., Moscati, A. & Loos, R. J. F. PLoS Med. 17, e1003196 (2020).
Acknowledgements
AB is supported by the European Research Council (ERC OpiO: 101043671).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Rights and permissions
About this article
Cite this article
Froguel, P., Bonnefond, A. The discovery of human agouti-induced obesity and its implication for genetic diagnosis. Nat Metab 4, 1614–1615 (2022). https://doi.org/10.1038/s42255-022-00695-6
Published:
Issue Date:
DOI: https://doi.org/10.1038/s42255-022-00695-6