Targeted disruption of the spermatid-specific gene Spata31 causes male infertility

Mol Reprod Dev. 2015 Jun;82(6):432-40. doi: 10.1002/mrd.22491. Epub 2015 Apr 30.

Abstract

Spata31, a novel testis-specific gene, was first isolated from the testis of a vitamin A-deficient rat model. To gain insight into its physiological function, Spata31-targeted knockout mice were generated by homologous recombination. Spata31-deficient (Spata31(flox/flox) ; Vasa-Cre) male mice exhibited low sperm count and premature shedding of germ cells into the lumen, ultimately causing azoospermia and male sterility. Mechanistically, the Spata31 deficiency resulted in reduced expression of the adhesion protein nectin-3 and cytoskeletal protein β-actin at the apical ectoplasmic specialization. Our findings demonstrate that the disruptions to the SPATA31 ortholog could be linked to human male infertility.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Adhesion Molecules / biosynthesis
  • Cell Adhesion Molecules / genetics
  • Gene Deletion*
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Humans
  • Infertility, Male / genetics
  • Infertility, Male / metabolism*
  • Male
  • Mice
  • Mice, Knockout
  • Nectins
  • Rats
  • Sperm Count

Substances

  • Cell Adhesion Molecules
  • Homeodomain Proteins
  • NECTIN3 protein, human
  • Nectin3 protein, mouse
  • Nectins