ArticleAmerican journal of human genetics2022
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
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 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- A novel loss-of-function mutation in MCMDC2 is associated with male infertility.Human genome variation · 2026Article
- A testis-specific E3 ubiquitin ligase complex governs spermiogenesis and male fertility.Nature communications · 2026Article
- The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility.Biomolecules · 2026Review
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- A comparison of spermatogenesis between flies and men-conserved processes of male gamete production.Human reproduction update · 2025Review
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- TKTL1: a new candidate gene in non-obstructive azoospermia.Reproductive biomedicine online · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years.Andrology · 2025Review
- Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.Journal of assisted reproduction and genetics · 2025Article
- Evolutionary divergence between homologous X-Y chromosome genes shapes sex-biased biology.Nature ecology & evolution · 2025Article
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Article
- Why geneticists should care about male infertility.Nature reviews. Genetics · 2024Article
- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- Interpreting the molecular mechanisms of RBBP4/7 and their roles in human diseases (Review).International journal of molecular medicine · 2024Review
- A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.Human reproduction open · 2024Article
- A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in humans and mice.Clinical and translational medicine · 2023Article
- X-linked RBBP7 mutation causes maturation arrest and testicular tumors.The Journal of clinical investigation · 2023Article
- DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.Communications biology · 2023Article
Corrections and comments
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Authors and funding
27 authors at 14 institutions in 7 countries.
Funding
Abstract
Although the evolutionary history of the X chromosome indicates its specialization in male fitness, its role in spermatogenesis has largely been unexplored. Currently only three X chromosome genes are considered of moderate-definitive diagnostic value. We aimed to provide a comprehensive analysis of all X chromosome-linked protein-coding genes in 2,354 azoospermic/cryptozoospermic men from four independent cohorts. Genomic data were analyzed and compared with data in normozoospermic control individuals and gnomAD. While updating the clinical significance of known genes, we propose 21 recurrently mutated genes strongly associated with and 34 moderately associated with azoospermia/cryptozoospermia not previously linked to male infertility (novel). The most frequently affected prioritized gene, RBBP7, was found mutated in ten men across all cohorts, and our functional studies in Drosophila support its role in germ stem cell maintenance. Collectively, our study represents a significant step towards the definition of the missing genetic etiology in idiopathic severe spermatogenic failure and significantly reduces the knowledge gap of X-linked genetic causes of azoospermia/cryptozoospermia contributing to the development of future diagnostic gene panels.
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