Ontology highlight
ABSTRACT:
SUBMITTER: Shen Y
PROVIDER: S-EPMC6347614 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Shen Ying Y Zhang Feng F Li Fuping F Jiang Xiaohui X Yang Yihong Y Li Xiaoliang X Li Weiyu W Wang Xiang X Cheng Juan J Liu Mohan M Zhang Xueguang X Yuan Guiping G Pei Xue X Cai Kailai K Hu Fengyun F Sun Jianfeng J Yan Lanzhen L Tang Li L Jiang Chuan C Tu Wenling W Xu Jinyan J Wu Haojuan H Kong Weiqi W Li Shuying S Wang Ke K Sheng Kai K Zhao Xudong X Yue Huanxun H Yang Xiaoyu X Xu Wenming W
Nature communications 20190125 1
Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technolog ...[more]