Nature Communications (Jan 2019)
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
- Ying Shen,
- Feng Zhang,
- Fuping Li,
- Xiaohui Jiang,
- Yihong Yang,
- Xiaoliang Li,
- Weiyu Li,
- Xiang Wang,
- Juan Cheng,
- Mohan Liu,
- Xueguang Zhang,
- Guiping Yuan,
- Xue Pei,
- Kailai Cai,
- Fengyun Hu,
- Jianfeng Sun,
- Lanzhen Yan,
- Li Tang,
- Chuan Jiang,
- Wenling Tu,
- Jinyan Xu,
- Haojuan Wu,
- Weiqi Kong,
- Shuying Li,
- Ke Wang,
- Kai Sheng,
- Xudong Zhao,
- Huanxun Yue,
- Xiaoyu Yang,
- Wenming Xu
Affiliations
- Ying Shen
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Feng Zhang
- Obstetrics and Gynecology Hospital, Institute of Metabolism and Integrative Biology, School of Life Sciences, Fudan University
- Fuping Li
- Human Sperm Bank, West China Second University Hospital, Sichuan University
- Xiaohui Jiang
- Human Sperm Bank, West China Second University Hospital, Sichuan University
- Yihong Yang
- Center of Reproductive Medicine, West China Second University Hospital, Sichuan University
- Xiaoliang Li
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Weiyu Li
- Obstetrics and Gynecology Hospital, Institute of Metabolism and Integrative Biology, School of Life Sciences, Fudan University
- Xiang Wang
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Juan Cheng
- Southwest Medical University
- Mohan Liu
- Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center
- Xueguang Zhang
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Guiping Yuan
- Analytical & Testing Center, Sichuan University
- Xue Pei
- Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center
- Kailai Cai
- Chengdu Research Base of Giant Panda Breeding
- Fengyun Hu
- Auckland University
- Jianfeng Sun
- Teaching Hospital of Chengdu University of TCM
- Lanzhen Yan
- Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences
- Li Tang
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Chuan Jiang
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Wenling Tu
- Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center
- Jinyan Xu
- Human Sperm Bank, West China Second University Hospital, Sichuan University
- Haojuan Wu
- Southwest Medical University
- Weiqi Kong
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Shuying Li
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Ke Wang
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Kai Sheng
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- Xudong Zhao
- Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences
- Huanxun Yue
- Human Sperm Bank, West China Second University Hospital, Sichuan University
- Xiaoyu Yang
- State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Hospital, Nanjing Medical University
- Wenming Xu
- Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University
- DOI
- https://doi.org/10.1038/s41467-018-08182-x
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 15
Abstract
Multiple morphological abnormalities of the sperm flagella (MMAF) is a cause of male infertility. Here the authors identify homozygous nonsense mutations of the glutamine rich 2 (QRICH2) gene in two MMAF patients from 2 consanguineous families and show using QRICH2 knockout mice that the protein is required for sperm flagellar formation and motility.
