Article
Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.
The EMBO journal - 1 Jul 2021
Liu Chao, Liu Hongbin, Zhang Haobo, Wang Lina, Li Mengjing, Cai Feifei, Wang Xiuge, Wang Li, Zhang Ruidan, Yang Sijie, Liu Wenwen, Liang Yu, Wang Liying, Song Xiaohui, Su Shizhen, Gao Hui, Jiang Jing, Li Jinsong, Luo Mengcheng, Gao Fei, Chen Qi, Li Wei, Chen Zi-Jiang
Abstract excerpt
Current understanding holds that Klinefelter syndrome (KS) is not inherited, but arises randomly during meiosis. Whether there is any genetic basis for the origin of KS is unknown. Here, guided by our identification of some USP26 variations apparently associated with KS, we found that knockout of Usp26 in male mice resulted in the production of 41, XXY offspring. USP26 protein is localized at the XY body, and the...
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