ArticlePloS one2012
SEPTIN12 genetic variants confer susceptibility to teratozoospermia.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A systematic review and standardized clinical validity assessment of male infertility genes.Human reproduction (Oxford, England) · 2019Pooled it
- A Novel Hemizygous CDX4 Missense Variant Identified in a Taiwanese Man with Severe Teratozoospermia.Medicina (Kaunas, Lithuania) · 2026Article
- Article
- Molecular models of the sperm head-tail coupling apparatus.Journal of cell science · 2025Review
- The annulus: composition, role and importance in sperm flagellum biogenesis and male fertility.Basic and clinical andrology · 2024Review
- A novelFrontiers in cell and developmental biology · 2024Article
- Protamine 2 deficiency results in Septin 12 abnormalities.Frontiers in cell and developmental biology · 2024Article
- Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.Genes · 2023Review
- Localization Patterns of RAB3C Are Associated with Murine and Human Sperm Formation.Medicina (Kaunas, Lithuania) · 2022Article
- Homozygous Loss ofFrontiers in cell and developmental biology · 2022Article
- SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients.Molecular biology reports · 2021Article
- Review
- PRSS50 is a testis protease responsible for proper sperm tail formation and function.Development (Cambridge, England) · 2021Article
- Article
- ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects.Biomedicines · 2020Article
- Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.Journal of assisted reproduction and genetics · 2020Article
- Recent advances and future opportunities to diagnose male infertility.Current sexual health reports · 2019Article
- Article
- Testis-Specific SEPT12 Expression Affects SUN Protein Localization and is Involved in Mammalian Spermiogenesis.International journal of molecular sciences · 2019Article
- Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.The Journal of international medical research · 2019Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is estimated that 10-15% of couples are infertile and male factors account for about half of these cases. With the advent of intracytoplasmic sperm injection (ICSI), many infertile men have been able to father offspring. However, teratozoospermia still remains a big challenge to tackle. Septins belong to a family of cytoskeletal proteins with GTPase activity and are involved in various biological processes e.g. morphogenesis, compartmentalization, apoptosis and cytokinesis. SEPTIN12, identified by c-DNA microarray analysis of infertile men, is exclusively expressed in the post meiotic male germ cells. Septin12(+/+)/Septin12(+/-) chimeric mice have multiple reproductive defects including the presence of immature sperm in the semen, and sperm with bent neck (defect of the annulus) and nuclear DNA damage. These facts make SEPTIN12 a potential sterile gene in humans. In this study, we sequenced the entire coding region of SEPTIN12 in infertile men (n = 160) and fertile controls (n = 200) and identified ten variants. Among them is the c.474 G>A variant within exon 5 that encodes part of the GTP binding domain. The variant creates a novel splice donor site that causes skipping of a portion of exon 5, resulting in a truncated protein lacking the C-terminal half of SEPTIN12. Most individuals homozygous for the c.474 A allele had teratozoospermia (abnormal sperm <14%) and their sperm showed bent tail and de-condensed nucleus with significant DNA damage. Ex vivo experiment showed truncated SEPT12 inhibits filament formation in a dose-dependent manner. This study provides the first causal link between SEPTIN12 genetic variant and male infertility with distinctive sperm pathology. Our finding also suggests vital roles of SEPT12 in sperm nuclear integrity and tail development.
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