ArticleJournal of assisted reproduction and genetics2024
Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.
Article in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- HomozygousTranslational andrology and urology · 2026Article
- Oxidative Stress-Associated Alterations in Sperm ACTL7A Expression and Function in Men With Varicocele.Oxidative medicine and cellular longevity · 2026Article
- A Novel Variant of theGenes · 2025Article
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Authors and funding
7 authors.
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Abstract
purposeTo identify novel variants in ACTL9 and new phenotypes responsible for male infertility.
methodsGenomic DNA was extracted from peripheral blood samples for whole-exome sequencing (WES). Computer-assisted sperm analysis (CASA) was used to test the motility of spermatozoa. The ultrastructure of flagella and the mitochondrial sheath were assessed by scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Immunostaining was used to validate the localization and expression of ACTL9 and ACTL7A. An Actl9-mutated mouse model was used to validate the phenotypes by CASA and TEM.
resultsWe identified novel homozygous variants in ACTL9 in two independent Chinese families. Spermatozoa with ACTL9 mutations showed decreased CASA parameters and a higher proportion of spermatozoa with abnormal morphology, exhibiting coiled flagella and a thickened midpiece. The spermatozoa were characterized by chaotic or irregular '9+2' structures and irregular mitochondrial sheath arrangements in the flagellum. Actl9 knock-in mice also showed abnormal CASA parameters and irregular '9+2' structures in flagella.
conclusionsOur study expands the mutation spectrum and phenotypic spectrum of ACTL9.
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