Targeted disruption of the spermatid-specific gene Spata31 causes male infertility.
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.
Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China.
Yuan-Yi
YY
Wu
Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China.
Yong
Y
Yang
Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China.
Yong-De
YD
Xu
Department of Urology, The First Affiliated Hospital of General Hospital of the Chinese People's Liberation Army, Beijing, People's Republic of China.
Hua-Liang
HL
Yu
D000818:Animals; D015815:Cell Adhesion Molecules / Q000096:biosynthesis / Q000235:genetics; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000378:metabolism*; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D000075983:Nectins; D051381:Rats; D013076:Sperm Count
D015815:Cell Adhesion Molecules; D018398:Homeodomain Proteins; C000619014:NECTIN3 protein, human; C000619017:Nectin3 protein, mouse; D000075983:Nectins