ArticleOncotarget2017
Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 91 citations in OpenAlex.
- The spermatozoon neck role in infertility and intracytoplasmic sperm injection outcomes.Journal of assisted reproduction and genetics · 2026Review
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.Biomedicines · 2025Article
- Molecular models of the sperm head-tail coupling apparatus.Journal of cell science · 2025Review
- Insulin‑like growth factor 2 in spermatogenesis dysfunction (Review).Molecular medicine reports · 2025Review
- Loss of CCDC188 causes male infertility with defects in the sperm head-neck connection in mice†.Biology of reproduction · 2025Article
- Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation.Basic and clinical andrology · 2024Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Review
- Reversible Contraception in Males: An Obtainable Target?Biology · 2024Review
- A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.Basic and clinical andrology · 2024Article
- Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance.International journal of molecular sciences · 2022Article
- Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.World journal of clinical cases · 2022Article
- Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.Molecular genetics & genomic medicine · 2022Article
- Semen parameters are seriously affected in acephalic spermatozoa syndrome.Basic and clinical andrology · 2022Article
- Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.Journal of assisted reproduction and genetics · 2021Article
- Review
- The missing linker between SUN5 and PMFBP1 in sperm head-tail coupling apparatus.Nature communications · 2021Article
- Emerging approaches to male contraception.Fertility and sterility · 2021Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acephalic spermatozoa is a very rare disorder of male infertility. Here, in a patient from from a consanguineous family, we have identified, by whole-exome sequencing, a homozygous mutation (c.G2783A, p.G928D) in the BRDT gene. The gene product, BRDT, is a testis-specific protein that is considered an important drug target for male contraception. The G928D mutation is in the P-TEFb binding domain, which mediates the interaction with transcription elongation factor and might affect the transcriptional activities of downstream genes. By RNA-sequencing analysis of cells expressing the BRDT mutation, we found the p.G928D mutation protein causes mis-regulation of 899 genes compared with BRDT wild-type cells. Furthermore, by Gene Ontology analysis, the upregulated genes in p.G928D cells were enriched in the processes of intracellular transport, RNA splicing, cell cycle and DNA metabolic process, revealing the underlying mechanism of the pathology that leads to acephalic spermatozoa.
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