ArticleScience translational medicine2011
A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.
Article in Science translational medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed, 162 citations in OpenAlex.
- Article
- Unraveling the genomic structures, conserved functional domains and evolutionary dynamics of beta-defensins in Bubalus bubalis and Ovis aries.Immunogenetics · 2026Article
- Male reproductive biology was reshaped during placental mammal diversification through epididymal secretome expansion.EMBO reports · 2026Article
- Testis-specific knockout of Elovl4 reduces sperm motility and fertility in male mice.Scientific reports · 2026Article
- Mating system variation and gene expression in the male reproductive tract of Peromyscus mice.Molecular ecology · 2025Article
- Ovochymase 2 is a key regulatory factor modulating proteolytic pathways and sperm maturation in the mammalian epididymis†.Biology of reproduction · 2025Article
- Comparative Analysis of Proteomic Characteristics in Seminal Plasma Between Horses and Donkeys.Animals : an open access journal from MDPI · 2025Article
- Beta-defensin 126 (DEFB126) localization and expression in the sperms and male reproductive tract of the dromedary camel (Open veterinary journal · 2025Article
- Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression.PloS one · 2025Article
- Core fucosylation regulates the ovarian response via FSH receptor during follicular development.Journal of advanced research · 2025Article
- β-Defensin gene copy number variation in cattle.Royal Society open science · 2024Article
- DEFB119 stratifies dysbiosis with distorted networks in the seminal microbiome associated with male infertility.PNAS nexus · 2024Article
- The proteomic landscape of sperm surface deciphers its maturational and functional aspects in buffalo.Frontiers in physiology · 2024Article
- Age-associated epigenetic changes in mammalian sperm: implications for offspring health and development.Human reproduction update · 2023Review
- Defensins: defenders of human reproductive health.Human reproduction update · 2023Review
- β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.Cell reports. Medicine · 2022Article
- Defb19 regulates the migration of germ cell and is involved in male fertility.Cell & bioscience · 2022Article
- Analysis of amplification and association polymorphisms in the bovine beta-defensin 129 (BBD129) gene revealed its function in bull fertility.Scientific reports · 2022Article
- Conservation Biology and Reproduction in a Time of Developmental Plasticity.Biomolecules · 2022Review
- Two Male-Specific Antimicrobial Peptides SCY2 and Scyreprocin as Crucial Molecules Participated in the Sperm Acrosome Reaction of Mud CrabInternational journal of molecular sciences · 2022Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
A glycosylated polypeptide, β-defensin 126 (DEFB126), derived from the epididymis and adsorbed onto the sperm surface, has been implicated in immunoprotection and efficient movement of sperm in mucosal fluids of the female reproductive tract. Here, we report a sequence variant in DEFB126 that has a two-nucleotide deletion in the open reading frame, which generates an abnormal mRNA. The allele frequency of this variant sequence was high in both a European (0.47) and a Chinese (0.45) population cohort. Binding of the Agaricus bisporus lectin to the sperm surface glycocalyx was significantly lower in men with the homozygous variant (del/del) genotype than in those with either a del/wt or a wt/wt genotype, suggesting an altered sperm glycocalyx with fewer O-linked oligosaccharides in del/del men. Moreover, sperm from del/del carriers exhibited an 84% reduction in the rate of penetration of a hyaluronic acid gel, a surrogate for cervical mucus, compared to the other genotypes. This reduction in sperm performance in hyaluronic acid gels was not a result of decreased progressive motility (average curvilinear velocity) or morphological deficits. Nevertheless, DEFB126 genotype and lectin binding were correlated with sperm performance in the penetration assays. In a prospective cohort study of newly married couples who were trying to conceive by natural means, couples were less likely to become pregnant and took longer to achieve a live birth if the male partner was homozygous for the variant sequence. This common sequence variation in DEFB126, and its apparent effect of impaired reproductive function, will allow a better understanding, clinical evaluation, and possibly treatment of human infertility.
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