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

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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.

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Authors and Affiliations

  1. INSERM U.491 Faculté de Médecine, 27 bd Jean Moulin, 13385, Marseille Cedex 05, France

    Margaret L. Delbridge, Guy Longepied, Danielle Depetris, Marie-Genevieve Mattei & Michael J. Mitchell

  2. Department of Pathology, University of Washington, Seattle, Washington, USA

    Christine M. Disteche

  3. Comparative Genomics Group, Research School of Biological Sciences, The Australian National University, Canberra, ACT, Australia

    Jennifer A. Marshall Graves

Authors
  1. Margaret L. Delbridge
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  2. Guy Longepied
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  3. Danielle Depetris
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  4. Marie-Genevieve Mattei
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  5. Christine M. Disteche
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  6. Jennifer A. Marshall Graves
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  7. Michael J. Mitchell
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Correspondence to Margaret L. Delbridge.

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Delbridge, M.L., Longepied, G., Depetris, D. et al. 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 12, 345–356 (2004). https://doi.org/10.1023/B:CHRO.0000034134.91243.1c

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  • DOI: https://doi.org/10.1023/B:CHRO.0000034134.91243.1c

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