ArticleBiology of reproduction2011
Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.
Article in Biology of reproduction, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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Who cites it
73 citing papers in PubMed, 129 citations in OpenAlex.
- The genetics of situs inversus without primary ciliary dyskinesia.Scientific reports · 2020Trial
- Common Chiffchaffs (Phylloscopus collybita) Diverge in a Genomic Region Associated With Migration Differences in Willow Warblers (Phylloscopus trochilus).Molecular ecology · 2026Article
- Article
- MMSpa is a deep learning-based tool that enhances the identification of spatial domains in spatial transcriptomics studies.PLoS biology · 2026Article
- Quantification of transcript isoforms at the single-cell level using SCALPEL.Nature communications · 2025Article
- CRISPR/Cas9-mediated genome editing reveals seven testis-enriched transmembrane glycoproteins dispensable for male fertility in mice.Andrology · 2025Article
- Genetic advancements and future directions in ruminant livestock breeding: from reference genomes to multiomics innovations.Science China. Life sciences · 2025Review
- Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects.Scientific reports · 2024Article
- CATSPER2 and SPEF2 are potential molecular markers for boar sperm quality: a population association study.Journal of assisted reproduction and genetics · 2024Article
- Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2024Article
- Strong selection signatures for Aleutian disease tolerance acting on novel candidate genes linked to immune and cellular responses in American mink (Neogale vison).Scientific reports · 2024Article
- Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Frontiers of medicine · 2023Article
- Article
- Candidate genes and proteins regulating bull semen quality: a review.Tropical animal health and production · 2023Review
- Review
- ATAC-seq and RNA-seq analysis unravel the mechanism of sex differentiation and infertility in sex reversal chicken.Epigenetics & chromatin · 2023Article
- Islet primary cilia motility controls insulin secretion.Science advances · 2022Article
- Spef1/CLAMP binds microtubules and actin-based structures and regulates cell migration and epithelia cell polarity.Annals of the New York Academy of Sciences · 2022Review
- Recessive Mutations inAmerican journal of respiratory cell and molecular biology · 2022Article
- Developmental RNA-Seq transcriptomics of haploid germ cells and spermatozoa uncovers novel pathways associated with teleost spermiogenesis.Scientific reports · 2022Article
13 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Primary ciliary dyskinesia (PCD) results from defects in motile cilia function. Mice homozygous for the mutation big giant head (bgh) have several abnormalities commonly associated with PCD, including hydrocephalus, male infertility, and sinusitis. In the present study, we use a variety of histopathological and cell biological techniques to characterize the bgh phenotype, and we identify the bgh mutation using a positional cloning approach. Histopathological, immunofluorescence, and electron microscopic analyses demonstrate that the male infertility results from shortened flagella and disorganized axonemal and accessory structures in elongating spermatids and mature sperm. In addition, there is a reduced number of elongating spermatids during spermatogenesis and mature sperm in the epididymis. Histological analyses show that the hydrocephalus is characterized by severe dilatation of the lateral ventricles and that bgh sinuses have an accumulation of mucus infiltrated by neutrophils. In contrast to the sperm phenotype, electron microscopy demonstrates that mutant respiratory epithelial cilia are ultrastructurally normal, but video microscopic analysis shows that their beat frequency is lower than that of wild-type cilia. Through a positional cloning approach, we identified two sequence variants in the gene encoding sperm flagellar protein 2 (SPEF2), which has been postulated to play an important role in spermatogenesis and flagellar assembly. A causative nonsense mutation was validated by Western blot analysis, strongly suggesting that the bgh phenotype results from the loss of SPEF2 function. Taken together, the data in this study demonstrate that SPEF2 is required for cilia function and identify a new genetic cause of PCD in mice.
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