Spermatogenesis-associated 48 is essential for spermatogenesis in mice.

Azoospermia, oligospermia and teratozoospermia all seriously impact male reproductive health. Spermatogenesis is a complex and precisely regulated process in which germ cells proliferate and differentiate and involves the regulation of multiple testis-specific genes. Here, we identified testis-specific gene spermatogenesis-associated 48 (SPATA48), the expression of which was age-dependent, indicating that it is involved in spermatogenesis. In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis. Spata48-/- knockout male mice had smaller testis and defective spermatogenesis compared to wild-type (WT) mice. This study can help in the exploration of the genetic basis of male infertility and identify new targets for the diagnosis and treatment of male infertility.