ArticlePloS one2009
Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Identification and Functional Analysis of miRNAs in the Cauda Epididymis of Yak and Cattle.Animals : an open access journal from MDPI · 2026Article
- A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.Communications biology · 2026Article
- Abnormal Transcytosis Mechanisms in the Pathogenesis of Hydrocephalus: A Review.International journal of molecular sciences · 2025Review
- Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK.Frontiers in cell and developmental biology · 2023Article
- A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.Human genetics · 2021Review
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Zika virus dysregulates human Sertoli cell proteins involved in spermatogenesis with little effect on tight junctions.PLoS neglected tropical diseases · 2020Article
- Obesity significantly alters the human sperm proteome, with potential implications for fertility.Journal of assisted reproduction and genetics · 2020Article
- Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.Scientific reports · 2019Article
- Cytokine exocytosis and JAK/STAT activation in theJournal of cell science · 2018Article
- α-SNAP is expressed in mouse ovarian granulosa cells and plays a key role in folliculogenesis and female fertility.Scientific reports · 2017Article
- A vesicle trafficking protein αSNAP regulates Paneth cell differentiation in vivo.Biochemical and biophysical research communications · 2017Article
- NaeLife · 2017Article
- Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs.Experimental cell research · 2016Article
- α-SNAP prevents docking of the acrosome during sperm exocytosis because it sequesters monomeric syntaxin.PloS one · 2011Article
- Fertilization: a sperm's journey to and interaction with the oocyte.The Journal of clinical investigation · 2010Review
- Phenotyping male infertility in the mouse: how to get the most out of a 'non-performer'.Human reproduction updateReview
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hydrocephalus with hop gait (hyh) is a recessive inheritable disease that arose spontaneously in a mouse strain. A missense mutation in the Napa gene that results in the substitution of a methionine for isoleucine at position 105 (M105I) of alphaSNAP has been detected in these animals. alphaSNAP is a ubiquitous protein that plays a key role in membrane fusion and exocytosis. In this study, we found that male hyh mice with a mild phenotype produced morphologically normal and motile sperm, but had a strongly reduced fertility. When stimulated with progesterone or A23187 (a calcium ionophore), sperm from these animals had a defective acrosome reaction. It has been reported that the M105I mutation affects the expression but not the function of the protein. Consistent with an hypomorphic phenotype, the testes and epididymides of hyh mice had low amounts of the mutated protein. In contrast, sperm had alphaSNAP levels indistinguishable from those found in wild type cells, suggesting that the mutated protein is not fully functional for acrosomal exocytosis. Corroborating this possibility, addition of recombinant wild type alphaSNAP rescued exocytosis in streptolysin O-permeabilized sperm, while the mutant protein was ineffective. Moreover, addition of recombinant alphaSNAP. M105I inhibited acrosomal exocytosis in permeabilized human and wild type mouse sperm. We conclude that the M105I mutation affects the expression and also the function of alphaSNAP, and that a fully functional alphaSNAP is necessary for acrosomal exocytosis, a key event in fertilization.
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