title: TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.
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.
authors.affiliation: INSERM U.491 Faculté de Médecine, 27 bd Jean Moulin, 13385 Marseille Cedex 05, France. delbridge@rsbs.anu.edu.au
authors.forename: Margaret L
authors.initials: ML
authors.lastname: Delbridge
authors.forename: Guy
authors.initials: G
authors.lastname: Longepied
authors.forename: Danielle
authors.initials: D
authors.lastname: Depetris
authors.forename: Marie-Genevieve
authors.initials: MG
authors.lastname: Mattei
authors.forename: Christine M
authors.initials: CM
authors.lastname: Disteche
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Marshall Graves
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Mitchell
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D014408:Biomarkers, Tumor / Q000235:genetics*; D002453:Cell Cycle / Q000235:genetics*; D018797:Cell Cycle Proteins; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018238:Gonadoblastoma / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016415:Sequence Alignment; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C497746:Sry protein, mouse; C497749:TSPY1 protein, human; D014157:Transcription Factors