In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.

doi:10.1530/EJE-17-0293

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Article

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.

European journal of endocrinology - 1 Sept 2017

Salvatori Roberto, Radian Serban, Diekmann Yoan, Iacovazzo Donato, David Alessia, Gabrovska Plamena, Grassi Giorgia, Bussell Anna-Marie, Stals Karen, Weber Astrid, Quinton Richard, Crowne Elizabeth C, Corazzini Valentina, Metherell Lou, Kearney Tara, Du Plessis Daniel, Sinha Ajay Kumar, Baborie Atik, Lecoq Anne-Lise, Chanson Philippe, Ansorge Olaf, Ellard Sian, Trainer Peter J, Balding David, Thomas Mark G, Korbonits Márta

Abstract excerpt

OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN AND METHODS: Observational, inferential and experimental study, including: AIP mutation testing; reconstruction of 14 AIP-region...

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PMID: 28634279
DOI: 10.1530/EJE-17-0293
PMCID: PMC5510572

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