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Spermatogenesis revisited. IV. Abnormal spermiogenesis in mice homozygous for another male-sterility-inducing
Abstract:
Gametogenesis is normal through meiosis and the earliest phases of spermiogenesis in male-sterile mice homozygous for the recessive, pleiotropic, mutation hpy (hydrocephalic-polydactyl). However, structurally complete sperm flagella were not encountered. Instead partially assembled axonemal structures and/or poorly organized aggregates of other tail components (mitochondria, outer coarse fibers) were seen at the posterior poles of nuclei in older spermatids. The ultrastructure of centrioles in spermatids was normal, but that of axonemes associated with them was not. These findings suggest that the observed flagella dysgenesis results from defects in assembly rather than from defective intiation centers. Released "gameters" usually consisted of ditorted nuclei and associated acrosome enclosed in a relatively close fitting plasma membrane. Perturbations of sperm head development were also encountered; they included extreme nuclear elongation, and distortion of the acrosome and underlying nuclear material by impushings of finger-like processes of Sertoli cells. It is believed that sperm head anomalies are secondary consequences of the mutant condition. The findings support the view that the hpy locus represents one of a number of genes primarily involved in the mediation of flagella development.
Insights
The hydrocephalic-polydactyl (hpy) mutation in mice disrupts sperm flagella development, leading to male sterility. This study reveals defects in flagellar assembly, not initiation, causing abnormal sperm structures.
Area of Science:
- Reproductive Biology
- Developmental Biology
- Genetics
Background:
- Male sterility can arise from various genetic mutations affecting gametogenesis.
- The hydrocephalic-polydactyl (hpy) mutation is a recessive, pleiotropic mutation impacting male fertility.
Purpose of the Study:
- To investigate the effects of the hpy mutation on sperm development and flagella formation.
- To determine the specific stage and nature of defects in spermiogenesis caused by the hpy mutation.
Main Methods:
- Electron microscopy was used to examine spermatids and sperm ultrastructure in hpy homozygous mice.
- Comparative analysis of normal and mutant sperm development was performed.
Main Results:
- Gametogenesis and early spermiogenesis were normal, but complete sperm flagella were absent.
- Defects in axonemal assembly and disorganized tail components were observed in late spermatids.
- Abnormalities in sperm head development, including nuclear elongation and acrosome distortion, were secondary consequences.
Conclusions:
- The hpy mutation primarily affects flagellar assembly, not the initiation of flagella formation.
- The hpy locus is crucial for mediating proper flagella development.
- Sperm head anomalies are likely secondary to the primary defect in flagella formation.
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