TSPY, the Candidate Gonadoblastoma Gene on the Human Y Chromosome, has a Widely Expressed Homologue on the X - Implications for Y Chromosome Evolution Academic Article uri icon


  • TSPY, a candidate gene for a factor that promotes gonadoblastoma formation (GBY), is a testis-specific multicopy gene family in the male-specific region of the human Y (MSY) chromosome. Although it was originally proposed that male-specific genes on the Y originated from a transposed copy of an autosomal gene (Lahn & Page 1999b), at least two male-specific genes (RBMY and SRY) descended from a formerly recombining X-Y identical gene pair. Here we show that a TSPY homologue with similar gene structure lies in conserved positions, close to SMCX, on the X chromosome in human (TSPX ) and mouse (Tspx). TSPX is widely expressed and subject to X inactivation. TSPX and TSPY therefore evolved from an identical gene pair on the original mammalian sex chromosomes. This supports the hypothesis that even male-specific genes on the Y chromosome may have their origin in ubiquitously expressed genes on the X. It also strengthens the case for TSPY as a candidate for GBY, since independent functional studies link TSPX to cell cycle regulation.


  • Graves, Jenny
  • Delbridge, Margaret L
  • Longepied, Guy
  • Depetris, Danielle
  • Mattei, Marie-Genevieve
  • Disteche, Christine M
  • Marshall Graves, Jennifer A
  • Mitchell, Michael J

publication date

  • 2004

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