TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution

Chromosome Res. 2004;12(4):345-56. doi: 10.1023/B:CHRO.0000034134.91243.1c.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Biomarkers, Tumor / genetics*
  • Cell Cycle / genetics*
  • Cell Cycle Proteins
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gonadoblastoma / genetics*
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Sequence Alignment
  • Sex-Determining Region Y Protein
  • Transcription Factors / genetics*

Substances

  • Biomarkers, Tumor
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Sry protein, mouse
  • TSPY1 protein, human
  • Transcription Factors