Chunyu Liu, Wei Si, Chaofeng Tu, Shixiong Tian, Xiaojin He, Shengnan Wang, Xiaoyu Yang, Chencheng Yao, Cong Li, Zine-Eddine Kherraf, Maosen Ye, Zixue Zhou, Yuhua Ma, Yang Gao, Yu Li, Qiwei Liu, Shuyan Tang, Jiaxiong Wang, Hexige Saiyin, Liangyu Zhao, Liqun Yang, Lanlan Meng, Bingbing Chen, Dongdong Tang, Yiling Zhou, Huan Wu, Mingrong Lv, Chen Tan, Ge Lin, Qingpeng Kong, Hong Shi, Zhixi Su, Zheng Li, Yong-Gang Yao, Li Jin, Ping Zheng, Pierre F Ray, Yue-Qiu Tan, Yunxia Cao, Feng Zhang
Primate-specific genes (PSGs) tend to be expressed in the brain and testis. This phenomenon is consistent with brain evolution in primates but is seemingly contradictory to the similarity of spermatogenesis among mammals. Here, using whole-exome sequencing, we identified deleterious variants of X-linked SSX1 in six unrelated men with asthenoteratozoospermia. SSX1 is a PSG expressed predominantly in the testis, and the SSX family evolutionarily expanded independently in rodents and primates. As the mouse model could not be used for studying SSX1, we used a non-human primate model and tree shrews, which are phylogenetically similar to primates, to knock down (KD) Ssx1 expression in the testes...
March 2, 2023: American Journal of Human Genetics