ArticleScientific reports2018
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- ELAPOR1 regulates VPS54-mediated GARP complex formation and proacrosomal vesicle fusion during spermatogenesis.Theranostics · 2026Article
- AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Mechanisms of Development of Sperm Defects.Advances in anatomy, embryology, and cell biology · 2025Review
- Bovine Spermatogenesis.Advances in anatomy, embryology, and cell biology · 2025Review
- TheCells · 2024Article
- The deubiquitinase cofactor UAF1 interacts with USP1 and plays an essential role in spermiogenesis.iScience · 2024Article
- A humanized mouse model for adeno-associated viral gene therapy.Nature communications · 2024Article
- Hardwiring tissue-specific AAV transduction in mice through engineered receptor expression.Nature methods · 2023Article
- NovelFrontiers in endocrinology · 2023Article
- A Non-Synonymous Point Mutation in a WD-40 Domain Repeat of EML5 Leads to Decreased Bovine Sperm Quality and Fertility.Frontiers in cell and developmental biology · 2022Article
- FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice.Development (Cambridge, England) · 2021Article
- Kinesin-7 CENP-E regulates the formation and structural maintenance of the acrosome.Cell and tissue research · 2021Article
- High-Throughput Screening of Mouse Gene Knockouts Identifies Established and Novel High Body Fat Phenotypes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- Sperm Differentiation: The Role of Trafficking of Proteins.International journal of molecular sciences · 2020Review
- Abnormal fertility, acrosome formation, IFT20 expression and localization in conditionalAmerican journal of physiology. Cell physiology · 2020Article
- Mechanism of Acrosome Biogenesis in Mammals.Frontiers in cell and developmental biology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
Study of knockout (KO) mice has helped understand the link between many genes/proteins and human diseases. Identification of infertile KO mice provides valuable tools to characterize the molecular mechanisms underlying gamete formation. The KIAA0319L gene has been described to have a putative association with dyslexia; surprisingly, we observed that homozygous KO males for AU040320, KIAA0319L ortholog, are infertile and present a globozoospermia-like phenotype. Mutant spermatozoa are mostly immotile and display a malformed roundish head with no acrosome. In round spermatids, proacrosomal vesicles accumulate close to the acroplaxome but fail to coalesce into a single acrosomal vesicle. In wild-type mice AU040320 localises to the trans-Golgi-Network of germ cells but cannot be detected in mature acrosomes. Our results suggest AU040320 may be necessary for the normal formation of proacrosomal vesicles or the recruitment of cargo proteins required for downstream events leading to acrosomal fusion. Mutations in KIAA0319L could lead to human infertility; we screened for KIAA0319L mutations in a selected cohort of globozoospermia patients in which no genetic abnormalities have been previously identified, but detected no pathogenic changes in this particular cohort.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.