ArticleNature medicine2014
Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.
Article in Nature medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 56 citations in OpenAlex.
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- VAMP7-dependent late endosomal secretion of ER and mitochondrial proteins impacts the tumor microenvironment and macrophage engagement.Nature communications · 2026Article
- Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- X-chromosome association study reveals genetic susceptibility loci of hypospadias in southern Chinese population.World journal of urology · 2025Article
- Streamlined identification of clinically and functionally relevant genetic regulators of lower-tract urogenital development.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- VAMP7j: A Splice Variant of Human VAMP7 That Modulates Neurite Outgrowth by Regulating L1CAM Transport to the Plasma Membrane.International journal of molecular sciences · 2023Article
- Male infertility.Nature reviews. Disease primers · 2023Review
- A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels.Case reports in genetics · 2023Article
- Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- What advances may the future bring to the diagnosis, treatment, and care of male sexual and reproductive health?Fertility and sterility · 2022Review
- Modeling development of genitourinary birth defects to understand disruption due to changes in gene dosage.American journal of clinical and experimental urology · 2022Review
- E2F1 regulates testicular descent and controls spermatogenesis by influencing WNT4 signaling.Development (Cambridge, England) · 2021Article
- Endocrine disrupting chemicals in the pathogenesis of hypospadias; developmental and toxicological perspectives.Current research in toxicology · 2021Review
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- [Aphallia - report of two cases].Der Urologe. Ausg. A · 2020Article
- Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission.BioMed research international · 2020Article
- Bioinformatic identification of key genes and molecular pathways in the spermatogenic process of cryptorchidism.Genes & diseases · 2019Article
- A critical role for estrogen signaling in penis development.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Despite the fact that genitourinary defects are among the most common birth defects in newborns, little is known about their etiology. Here we analyzed children born with congenital genitourinary tract masculinization disorders by array-comparative genomic hybridization, which revealed in 1.35% of cases the presence of de novo copy number gains at Xq28 encompassing the VAMP7 gene, which encodes a vesicle-trafficking protein that is part of the SNARE complex. Transgenic mice carrying a bacterial artificial chromosome encoding human VAMP7 mimicked the defective urogenital traits observed in boys with masculinization disorders such as cryptorchidism, urethral defects and hypospadias. Transgenic mice also exhibited reduced penile length, focal spermatogenic anomalies, diminished sperm motility and subfertility. VAMP7 colocalized with estrogen receptor α (ESR1) in the presence of its cognate ligand, 17β-estradiol. Elevated levels of VAMP7 markedly intensified ESR1-potentiated transcriptional activity by increasing ESR1 protein cellular content upon ligand stimulation and upregulated the expression of estrogen-responsive genes including ATF3, CYR61 and CTGF, all of which have been implicated in human hypospadias. Hence, increased gene dosage of VAMP7, and thus higher expression levels of its protein product, enhances estrogen receptor action in male genitourinary tissues, affects the virilization of the reproductive tract and results in genitourinary birth defects in humans.
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