Article
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
Nature genetics - 1 Jan 2015
Reincke Martin, Sbiera Silviu, Hayakawa Akira, Theodoropoulou Marily, Osswald Andrea, Beuschlein Felix, Meitinger Thomas, Mizuno-Yamasaki Emi, Kawaguchi Kohei, Saeki Yasushi, Tanaka Keiji, Wieland Thomas, Graf Elisabeth, Saeger Wolfgang, Ronchi Cristina L, Allolio Bruno, Buchfelder Michael, Strom Tim M, Fassnacht Martin, Komada Masayuki
Abstract excerpt
Cushing's disease is caused by corticotroph adenomas of the pituitary. To explore the molecular mechanisms of endocrine autonomy in these tumors, we performed exome sequencing of 10 corticotroph adenomas. We found somatic mutations in the USP8 deubiquitinase gene in 4 of 10 adenomas. The mutations clustered in the 14-3-3 protein binding motif and enhanced the proteolytic cleavage and catalytic activity of USP8....
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