Article
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
Human molecular genetics - 13 Oct 2021
Zhang Jintao, He Xiaojin, Wu Huan, Zhang Xin, Yang Shenmin, Liu Chunyu, Liu Siyu, Hua Rong, Zhou Shushu, Zhao Shuqin, Hu Fan, Zhang Junqiang, Liu Wangjie, Cheng Huiru, Gao Yang, Zhang Feng, Cao Yunxia, Liu Mingxi
Abstract excerpt
Motile cilia and flagellar defects can result in primary ciliary dyskinesia, which is a multisystemic genetic disorder that affects roughly 1:10 000 individuals. The nexin-dynein regulatory complex (N-DRC) links neighboring doublet microtubules within flagella, serving as a central regulatory hub for motility in Chlamydomonas. Herein, we identified two homozygous DRC1 variants in human patients that were...
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