ArticleNature communications2019
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Erratum issuedOpen access · goldAbstract readCase Reports
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 81 papers.
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81citing papers in PubMed
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81 citing papers in PubMed, 164 citations in OpenAlex.
- Novel IFT140 variants cause spermatogenic dysfunction in humans.Molecular genetics & genomic medicine · 2019Trial
- A novel homozygous frameshift mutation in CFAP65 is associated with multiple morphological abnormalities of sperm flagella in a consanguineous Pakistani family.Basic and clinical andrology · 2026Article
- TEX44 deficiency induces asthenoteratozoospermia by disrupting sperm axonemal integrity and mitochondrial sheath assembly, and ICSI enables successful fertility rescue.Journal of assisted reproduction and genetics · 2026Article
- A narrative review on the role of autophagy in male infertility-associated sperm abnormalities.Asian journal of andrology · 2026Review
- Dehydroepiandrosterone activates ADGRG2 to regulate chloride homeostasis and sperm motility via Gs-cAMP pathways.Science China. Life sciences · 2026Article
- Novel biallelic CFAP43 mutations induce MMAF with mitochondrial abnormalities and successful ICSI outcomes.Asian journal of andrology · 2026Article
- Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.Asian journal of andrology · 2026Article
- Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.Human genomics · 2025Article
- Genetic variants inThe Libyan journal of medicine · 2025Article
- CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.Asian journal of andrology · 2025Article
- scRNA-seq deciphers molecular mechanisms of endocrine disruptor 4-nonylphenol impairing spermatogenesis in mice.Cell biology and toxicology · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Absence of Rnf126 causes male infertility with multiple morphological abnormalities of the sperm flagella.Cell death discovery · 2025Article
- Single-cell transcriptomic atlas of the human testis across the reproductive lifespan.Nature aging · 2025Article
- Loss of Cep135 causes oligoasthenoteratozoospermia and male infertility in mice.Cellular and molecular life sciences : CMLS · 2025Article
- A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.Asian journal of andrology · 2025Article
- Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.Asian journal of andrology · 2025Article
- Genomic Patterns are Associated with Different Sequelae of Patients with Long-Term COVID-19.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia.Journal of human genetics · 2025Article
- TMEM232 is required for the formation of sperm flagellum and male fertility in mice.Cell death & disease · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
30 authors at 8 institutions in 3 countries.
Ying ShenDepartment 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, 610041, Chengdu, China.
Feng ZhangObstetrics and Gynecology Hospital, Institute of Metabolism and Integrative Biology, School of Life Sciences, Fudan University, 200011, Shanghai, China.ORCID http://orcid.org/0000-0003-4556-8276
Fuping LiHuman Sperm Bank, West China Second University Hospital, Sichuan University, 610041, Chengdu, China.
Xiaohui JiangHuman Sperm Bank, West China Second University Hospital, Sichuan University, 610041, Chengdu, China.
Yihong YangCenter of Reproductive Medicine, West China Second University Hospital, Sichuan University, 610041, Chengdu, China.
Xiaoliang LiDepartment 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, 610041, Chengdu, China.
Weiyu LiObstetrics and Gynecology Hospital, Institute of Metabolism and Integrative Biology, School of Life Sciences, Fudan University, 200011, Shanghai, China.
Xiang WangDepartment 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, 610041, Chengdu, China.
Juan ChengSouthwest Medical University, 646000, Luzhou, China.
Mohan LiuDepartment of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center, 610041, Chengdu, China.
Xueguang ZhangDepartment 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, 610041, Chengdu, China.
Guiping YuanAnalytical & Testing Center, Sichuan University, 610041, Chengdu, China.
Xue PeiDepartment of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center, 610041, Chengdu, China.
Kailai CaiChengdu Research Base of Giant Panda Breeding, 610041, Chengdu, China.
Fengyun HuAuckland University, 1142, Auckland, New Zealand.
Jianfeng SunTeaching Hospital of Chengdu University of TCM, 610041, Chengdu, China.
Lanzhen YanKey Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, 650000, Kunming, China.
Li TangDepartment 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, 610041, Chengdu, China.
Chuan JiangDepartment 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, 610041, Chengdu, China.
Wenling TuDepartment of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center, 610041, Chengdu, China.
Jinyan XuHuman Sperm Bank, West China Second University Hospital, Sichuan University, 610041, Chengdu, China.
Haojuan WuSouthwest Medical University, 646000, Luzhou, China.
Weiqi KongDepartment 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, 610041, Chengdu, China.
Shuying LiDepartment 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, 610041, Chengdu, China.
Ke WangDepartment 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, 610041, Chengdu, China.
Kai ShengDepartment 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, 610041, Chengdu, China.
Xudong ZhaoKey Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, 650000, Kunming, China. zhaoxudong@mail.kiz.ac.cn.
Huanxun YueHuman Sperm Bank, West China Second University Hospital, Sichuan University, 610041, Chengdu, China. yuehuanx@139.com.
Xiaoyu YangState Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Hospital, Nanjing Medical University, 210029, Nanjing, China. yxy1921@163.com.
Wenming XuDepartment 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, 610041, Chengdu, China. xuwenming@scu.edu.cn.
Sichuan University · CNFudan University · CNKunming Institute of Zoology · CNSouthwest Medical University · CNChengdu Research Base of Giant Panda Breeding · CNChengdu University · CNNanjing Medical University · CNUniversity of Auckland · NZ
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.
Indexed as
Loss of Function MutationAdultA Kinase Anchor ProteinsAnimalsCalcium-Binding ProteinsConsanguinityGene ExpressionGene Expression ProfilingHeat-Shock ProteinsHumansInfertility, MaleMaleMiceMice, KnockoutMicrotubule ProteinsPedigreeAKAP3 protein, humanA Kinase Anchor ProteinsCABYR protein, humanCalcium-Binding ProteinsHeat-Shock ProteinsMicrotubule ProteinsODF2 protein, humanPhosphoproteinsQRICH2 protein, humanQrich2 protein, mouse
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