Journal Article

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

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

2004

Overview

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.

• Publisher: Springer Nature B.V
• Subject: Amino Acid Sequence / Animals / Biomarkers, Tumor - genetics / Cell cycle / Cell Cycle - genetics / Cell Cycle Proteins / Chromosomes, Human, X - genetics / Chromosomes, Human, Y - genetics / DNA-Binding Proteins - genetics / Female / Genes / Genetics / Gonadoblastoma - genetics / Humans / Male / Mice / Molecular Sequence Data / Neoplasm Proteins - genetics / Nuclear Proteins - genetics / Sequence Alignment / Sex chromosomes / Sex-Determining Region Y Protein / Transcription Factors - genetics / Y chromosomes