• PMID: 25930072
• Gene Name: SPATA31A1
• Condition: Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

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

Wu YY, Yang Y, Xu YD, Yu HL.

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. CI - © 2015 Wiley Periodicals, Inc. FAU - Wu, Yuan-Yi AU - Wu YY AD - Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China. FAU - Yang, Yong AU - Yang Y AD - Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China. FAU - Xu, Yong-De AU - Xu YD AD - Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China.