Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Testis
SUBMITTER: Jichang Huang
LAB HEAD: Ying Shen
PROVIDER: PXD022731 | Pride | 2022-05-19
REPOSITORIES: Pride
Zhang Xueguang X Wang Lingbo L Ma Yongyi Y Wang Yan Y Liu Hongqian H Liu Mohan M Qin Lang L Li Jinghong J Jiang Chuan C Zhang Xiaojian X Shan Xudong X Liu Yuliang Y Li Jinsong J Li Yaqian Y Zheng Rui R Sun Yongkang Y Sun Jianfeng J Leng Xiangyou X Liang Yan Y Zhang Feng F Jiang Xiaohui X Yang Yihong Y Shen Ying Y
Nature communications 20220316 1
Centrosomal proteins are necessary components of the centrosome, a conserved eukaryotic organelle essential to the reproductive process. However, few centrosomal proteins have been genetically linked to fertility. Herein we identify a homozygous missense variant of CEP128 (c.665 G > A [p.R222Q]) in two infertile males. Remarkably, male homozygous knock-in mice harboring the orthologous CEP128<sup>R222Q</sup> variant show anomalies in sperm morphology, count, and motility. Moreover, Cep128 knock- ...[more]