Ubiquitously Transcribed Tetratricopeptide Repeat Gene, Y-Linked (UTY)

UTY encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. This protein is a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. Alternative splicing results in multiple transcript variants encoding different isoforms.

Deletions were found in 9 patients: DBY alone was deleted in 6, DFFRY (USP9Y) only in 1, and 1 each with USP9Y-DBY or DBY-UTY missing. No patients solely lacked UTY. Patients lacking DBY exhibited either Sertoli cell-only syndrome or severe hypospermatogenesis. The authors suggested that DBY and USP9Y play key roles in the spermatogenic process.