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Genetics of obesity

The discovery of human agouti-induced obesity and its implication for genetic diagnosis

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.

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Fig. 1: Methodology used for the discovery of the ASIP tandem duplication as a novel cause of monogenic obesity.

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Acknowledgements

AB is supported by the European Research Council (ERC OpiO: 101043671).

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Correspondence to Amélie Bonnefond.

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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

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