Roles of Cep215/Cdk5rap2 in establishing testicular architecture for mouse male germ cell development

FASEB J. 2024 Nov 30;38(22):e70188. doi: 10.1096/fj.202401541R.

Abstract

Cep215/Cdk5rap2 is a centrosome protein crucial for directing microtubule organization during cell division and morphology. Cep215 is a causal gene of autosomal recessive primary microcephaly type 3, characterized by a small brain size and a thin cerebral cortex. Despite previous attempts with Cep215 knockout (KO) mice to elucidate its developmental roles, interpreting their phenotypes remained challenging due to potential interference from alternative variants. Here, we generated KO mice completely lacking the Cep215 gene and investigated its specific contributions to male germ cell development. In the absence of Cep215, testis size decreased significantly, accompanied by a reduction in male germ cell numbers. Histological analyses unveiled the arrested development of male germ cells around the zygotene stage of meiosis. Concurrently, the formation of the blood-testis barrier (BTB) was impaired in Cep215 KO testes. These findings suggest that BTB failure contributes, at least partially, to male germ cell defects observed in Cep215 KO mice. We propose that the deletion of Cep215 may disrupt microtubule organization in Sertoli cells with a delay in spermatogonial stem cell mitosis, thereby impeding proper BTB formation.

Keywords: Cep215/Cdk5rap2; Sertoli cells; blood‐testis barrier; male germ cells; meiosis; testis.

MeSH terms

  • Animals
  • Blood-Testis Barrier / metabolism
  • Cell Cycle Proteins* / genetics
  • Cell Cycle Proteins* / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Sertoli Cells / cytology
  • Sertoli Cells / metabolism
  • Spermatogenesis / genetics
  • Spermatogenesis / physiology
  • Spermatogonia / cytology
  • Spermatogonia / metabolism
  • Testis* / metabolism

Substances

  • Cell Cycle Proteins
  • Cdk5rap2 protein, mouse
  • Nerve Tissue Proteins