ArticleThe Journal of experimental medicine2020
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
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Article in The Journal of experimental medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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82citing papers in PubMed
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Who cites it
82 citing papers in PubMed.
- Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans.Asian journal of andrology · 2026Article
- Reduced eccDNA content in idiopathic asthenozoospermia sperm is associated with compromised DNA repair capacity and elevated DNA damage.Cellular & molecular biology letters · 2026Article
- Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.Asian journal of andrology · 2026Article
- DNAH3 interacts with DNALI1 and is required for sperm flagellum function and male fertility.Reproductive biology and endocrinology : RB&E · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- IGF2BP3 recognizes mThe EMBO journal · 2026Article
- A Novel Homozygous Mutation inHuman mutation · 2026Article
- Prenatal Low Testosterone Levels Induced byBiomedicines · 2025Article
- Novel DNAH17 Splice-Site Mutations Truncating the AAA6 Domain Cause Asthenozoospermia with MMAF.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- The therapeutic potential of Zuogui Wan in oligoasthenozoospermia: insights from network pharmacology, molecular docking, molecular dynamics simulation, and experimental validation.Scientific reports · 2025Article
- A novel frameshift variant in AXDND1 may cause multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.Asian journal of andrology · 2025Article
- Testis-specific protein HSF5 is essential for proper chromatin organization and transcriptional reprogramming to drive pachynema progression.Zoological research · 2025Article
- The TEX44-CPT1B axis regulates mitochondrial sheath assembly and fatty acid oxidation in sperm.Nature communications · 2025Article
- Disruption of TEX38 impairs sperm morphogenesis and the migration of sperm into the oviduct.Communications biology · 2025Article
- TTBK2 affects sperm quality by regulating the expression of centrosomal proteins and flagellar transporters during spermiogenesis in mice.Molecular human reproduction · 2025Article
- Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility.Asian journal of andrology · 2025Article
- Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.eLife · 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
- 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
- Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.Science China. Life sciences · 2025Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
33 authors.
Beibei Zhang *The First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Hui Ma *The First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Teka Khan *The First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Ao MaThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Tao LiThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Huan ZhangThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Jianing GaoThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Jianteng ZhouThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Yang LiThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Changping YuThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Jianqiang BaoThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Asim AliThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Ghulam MurtazaThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Hao YinThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Qian GaoThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Xiaohua JiangThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Feng ZhangObstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, China.
Chunyu LiuObstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, China.
Ihsan KhanThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Muhammad ZubairThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Hafiz Muhammad Jafar HussainThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Ranjha KhanThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Ayesha YousafThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Limin YuanAnalysis and test center, Co-Innovation Center for Modern Production Technology of Grain Crops, Yangzhou University, Yangzhou, China.
Yan LuAnalysis and test center, Co-Innovation Center for Modern Production Technology of Grain Crops, Yangzhou University, Yangzhou, China.
Xiaoling XuDepartment of Respiration, The First Affiliated Hospital of University of Science and Technology of China, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Yun WangDepartment of Respiration, The First Affiliated Hospital of University of Science and Technology of China, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Qizhao TaoThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Qiaomei HaoThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Hui FangThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Hongtao ChengThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Yuanwei ZhangThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Qinghua ShiThe First Affiliated Hospital of University of Science and Technology of China, Hefei National Laboratory for Physical Sciences at Microscale, University of Science and Technology of China-Shenyang Jinghua Hospital Joint Center for Human Reproduction and Genetics, Chinese Academy of Sciences (CAS) Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei, China.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Asthenozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin parents, displaying idiopathic asthenozoospermia but no ciliary-related symptoms. Whole-exome sequencing identified a missense variant (c.G5408A, p.C1803Y) in DNAH17, a functionally uncharacterized gene, recessively cosegregating with asthenozoospermia in the family. DNAH17, specifically expressed in testes, was localized to sperm flagella, and the mutation did not alter its localization. However, spermatozoa of all three patients showed higher frequencies of microtubule doublet(s) 4-7 missing at principal piece and end piece than in controls. Mice carrying a homozygous mutation (Dnah17M/M) equivalent to that in patients recapitulated the defects in patients' sperm tails. Further examinations revealed that the doublets 4-7 were destabilized largely due to the storage of sperm in epididymis. Altogether, we first report that a homozygous DNAH17 missense variant specifically induces doublets 4-7 destabilization and consequently causes asthenozoospermia, providing a novel marker for genetic counseling and diagnosis of male infertility.
Indexed as
Mutation, MissenseAdultAnimalsAsthenozoospermiaAxonemal DyneinsCell Line, TumorDisease Models, AnimalFemaleGenotypeHEK293 CellsHumansMaleMiceMice, Inbred C57BLMice, KnockoutSpermatozoaAxonemal DyneinsDNAH17 protein, human
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