ArticleAmerican journal of human genetics2020
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- A Western-style diet exacerbates male infertility in M1ap knockout mice.Human reproduction (Oxford, England) · 2026Article
- Variants in ZZS Complex-Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia.Andrology · 2026Article
- Micro-TESE in Non-Obstructive Azoospermia: Phenotype-Guided Hormonal Optimization and Testosterone Response-Prognostic Biomarker or Therapeutic Target?Journal of clinical medicine · 2026Review
- Pervasive relaxed selection on spermatogenesis genes coincident with the evolution of polygyny in gorillas.eLife · 2026Article
- Messenger RNA delivery into Sertoli cells restores fertility to congenitally infertile male mice.Stem cell reports · 2026Article
- Homozygous C12orf40 variant contributes to severe oligoasthenoteratozoospermia and sperm sex chromosome aneuploidy.Journal of assisted reproduction and genetics · 2026Article
- Development and validation of a nomogram for predicting sperm retrieval success in patients with non-obstructive azoospermia undergoing testicular sperm aspiration.Translational andrology and urology · 2026Article
- Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review.Open medicine (Warsaw, Poland) · 2026Article
- Gene therapy for non-obstructive azoospermia: therapeutic avenues and translational pathway to clinical application.Frontiers in genome editing · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Identification of missense DMC1 variants in males with non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.The world journal of men's health · 2025Article
- NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis.Nature communications · 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
- PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.Genetic epidemiology · 2025Article
- Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.Journal of assisted reproduction and genetics · 2024Review
- The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis.eLife · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
Corrections and comments
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Authors and funding
35 authors at 14 institutions in 9 countries.
Funding
Abstract
Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis. So far, only a few validated disease-associated genes have been reported. To address this gap, we performed whole-exome sequencing in 58 men with unexplained meiotic arrest and identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP, encoding meiosis 1 associated protein, in three unrelated men. This variant most likely results in a truncated protein as shown in vitro by heterologous expression of mutant M1AP. Next, we screened four large cohorts of infertile men and identified three additional individuals carrying homozygous c.676dup and three carrying combinations of this and other likely causal variants in M1AP. Moreover, a homozygous missense variant, c.1166C>T (p.Pro389Leu), segregated with infertility in five men from a consanguineous Turkish family. The common phenotype between all affected men was NOA, but occasionally spermatids and rarely a few spermatozoa in the semen were observed. A similar phenotype has been described for mice with disruption of M1ap. Collectively, these findings demonstrate that mutations in M1AP are a relatively frequent cause of autosomal recessive severe spermatogenic failure and male infertility with strong clinical validity.
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Registered trials
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