ArticleCommunications biology2023
DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 37 citations in OpenAlex.
- Y-Linked Expression Signatures Distinguish Dysfunctional Testicular States in Sheep.Animals : an open access journal from MDPI · 2026Article
- Comment on "the FertilitY predictor under scrutiny: a call for reassessment of methodological and biological flaws".Journal of assisted reproduction and genetics · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype.Frontiers in genetics · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Computational tracking of cell origins using CellSexID from single-cell transcriptomes.Cell reports methods · 2025Article
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years.Andrology · 2025Review
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.Andrology · 2025Article
- New therapeutic approaches for fibrosis: harnessing translational regulation.Trends in molecular medicine · 2025Review
- Exploring the therapeutic effect of melatonin targeting common biomarkers in testicular germ cell tumor, prostate adenocarcinoma, and male infertility: an integrated biology approach.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Two dynamical models for male infertility and their stability and sensitivity analysis.Scientific reports · 2025Article
- Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.Nature communications · 2025Article
- DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.Trends in genetics : TIG · 2025Review
- Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.Basic and clinical andrology · 2025Article
- Systematic identification of Y-chromosome gene functions in mouse spermatogenesis.Science (New York, N.Y.) · 2025Article
- Genome-wide DNA methylation and gene expression in human placentas derived from assisted reproductive technology.Communications medicine · 2024Article
- DDX3 is critical for female fertility via translational control in oogenesis.Cell death discovery · 2024Article
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Authors and funding
14 authors at 7 institutions in 4 countries.
Funding
Abstract
Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men. Three of the patients underwent testicular sperm extraction and revealed the typical AZFa testicular Sertoli cell-only phenotype. One of the variants was proven to be de novo. Consequently, DDX3Y represents the AZFa key spermatogenic factor and screening for variants in DDX3Y should be included in the diagnostic workflow.
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