ArticleAmerican journal of human genetics2022
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
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Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 47 citations in OpenAlex.
- Targeting the DNHD1‑HDAC6 axis inactivates prostate cancer cell aggressivenessOncology reports · 2026Article
- The KIF6-RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 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
- Syncytin-a deficiency compromises murine sperm function by suppressing PRL/PGE2 and PI3K/AKT/mTOR pathway.iScience · 2026Article
- Chronic Hypoxia Disrupts Spermatogenesis Through ASXL2-EZH2-Mediated Microtubule Destabilization.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.Journal of assisted reproduction and genetics · 2026Article
- Role of SPAG6 in regulating physiological functions and tumorigenesis (Review).International journal of oncology · 2026Review
- Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype.Asian journal of andrology · 2026Article
- IGF2BP3 recognizes mThe EMBO journal · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Of mice and men: translating mouse knockout models of human male infertility.Reproduction (Cambridge, England) · 2025Review
- Systemic impacts of diabetes on spermatogenesis and intervention strategies: multilayered mechanism analysis and cutting-edge therapeutic approaches.Reproductive biology and endocrinology : RB&E · 2025Review
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- DNAHX: a novel, non-motile dynein heavy chain subfamily, identified by cryo-EM endogenously.bioRxiv : the preprint server for biology · 2025Article
- Microtubule-Associated Proteins (MAPs) Are Multifunctional Cytoskeletal Proteins in the Testis That Regulate Spermatogenesis.Advances in experimental medicine and biology · 2025Review
- TMEM232 is required for the formation of sperm flagellum and male fertility in mice.Cell death & disease · 2024Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Further evidence fromiScience · 2024Article
- Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.Journal of assisted reproduction and genetics · 2024Article
- Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights.Nature aging · 2024Article
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Authors and funding
18 authors at 8 institutions in 1 country.
Chen TanInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China.
Lanlan MengInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Mingrong LvReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei 230032, China.
Xiaojin HeReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei 230032, China.
Yanwei ShaSchool of Public Health & Women and Children's Hospital, Xiamen University, Xiamen Fujian 361005, China; State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics & Center for Molecular Imaging and Translational Medicine, School of Public Health, Xiamen University, Xiamen 361102, China.
Dongdong TangReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei 230032, China.
Yaqi TanCollege of Life Science, Hunan Normal University, Changsha, Hunan 410081, People's Republic of China.
Tongyao HuInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China.
Wenbin HeInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Chaofeng TuReproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Hongchuan NieReproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Huan ZhangInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Juan DuInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Guangxiu LuReproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Li-Qing FanInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China.
Yunxia CaoReproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China; Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei 230032, China.
Ge LinInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China; College of Life Science, Hunan Normal University, Changsha, Hunan 410081, People's Republic of China. Electronic address: linggf36@hotmail.com.
Yue-Qiu TanInstitute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, People's Republic of China; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078, People's Republic of China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan 410013, People's Republic of China; NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, Hunan 410013, People's Republic of China; College of Life Science, Hunan Normal University, Changsha, Hunan 410081, People's Republic of China. Electronic address: tanyueqiu@csu.edu.cn.
National Engineering Research Center of Human Stem Cells · CNAnhui Medical University · CNCentral South University · CNReproductive & Genetic Hospital CITIC-Xiangya · CNHunan Provincial Center for Disease Control and Prevention · CNFirst Affiliated Hospital of Anhui Medical University · CNHunan Normal University · CNXiamen University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Asthenoteratozoospermia, defined as reduced sperm motility and abnormal sperm morphology, is a disorder with considerable genetic heterogeneity. Although previous studies have identified several asthenoteratozoospermia-associated genes, the etiology remains unknown for the majority of affected men. Here, we performed whole-exome sequencing on 497 unrelated men with asthenoteratozoospermia and identified DNHD1 bi-allelic variants from eight families (1.6%). All detected variants were predicted to be deleterious via multiple bioinformatics tools. Hematoxylin and eosin (H&E) staining revealed that individuals with bi-allelic DNHD1 variants presented striking abnormalities of the flagella; transmission electron microscopy (TEM) further showed flagellar axoneme defects, including central pair microtubule (CP) deficiency and mitochondrial sheath (MS) malformations. In sperm from fertile men, DNHD1 was localized to the entire flagella of the normal sperm; however, it was nearly absent in the flagella of men with bi-allelic DNHD1 variants. Moreover, abundance of the CP markers SPAG6 and SPEF2 was significantly reduced in spermatozoa from men harboring bi-allelic DNHD1 variants. In addition, Dnhd1 knockout male mice (Dnhd1
Indexed as
AllelesGenetic Predisposition to DiseaseMutationAnimalsAsthenozoospermiaAxonemeComputational BiologyDisease Models, AnimalDNA Mutational AnalysisDyneinsExome SequencingFlagellaGene FrequencyGenetic Association StudiesHumansInfertility, MaleDyneinsDNHD1male infertilitymitochondrial sheathsperm flagellawhole-exome sequencing
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