Human Genetics

, Volume 109, Issue 6, pp 569–575

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family

  • Michel Guipponi
  • Caroline Tapparel
  • Olivier Jousson
  • Nathalie Scamuffa
  • Christophe Mas
  • Colette Rossier
  • Pierre Hutter
  • Paolo Meda
  • Robert Lyle
  • Alexandre Reymond
  • Stylianos E. Antonarakis
Original Investigation

DOI: 10.1007/s004390100607

Cite this article as:
Guipponi, M., Tapparel, C., Jousson, O. et al. Hum Genet (2001) 109: 569. doi:10.1007/s004390100607

Abstract.

The human TPTE gene encodes a testis-specific protein that contains four potential transmembrane domains and a protein tyrosine phosphatase motif, and shows homology to the tumor suppressor PTEN/MMAC1. Chromosomal mapping revealed multiple copies of the TPTE gene present on the acrocentric chromosomes 13, 15, 21 and 22, and the Y chromosome. Zooblot analysis suggests that mice may possess only one copy of TPTE. In the present study, we report the isolation and initial characterization of the full-length cDNA of the mouse homologue Tpte. At least three different mRNA transcripts (Tpte.a, b, c) are produced via alternative splicing, encoding predicted proteins that would contain four potential transmembrane domains and a protein tyrosine phosphatase motif. Transfection of a 5′EGFP-TPTE fusion protein in Hela cells revealed an intracellular localization within the Golgi apparatus. Tpte was mapped by radiation hybrid to a region of mouse chromosome 8 that shows conserved synteny with human 13q14.2-q21 between NEK3 and SGT1. This region of the human genome was found to contain a partial, highly diverged copy of TPTE that is likely to represent the ancestral copy from which the other copies of TPTE arose through duplication events. The Y chromosome copy of TPTE is a pseudogene and is not therefore involved in the testis expression of this gene family.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Michel Guipponi
    • 1
  • Caroline Tapparel
    • 1
  • Olivier Jousson
    • 3
  • Nathalie Scamuffa
    • 1
  • Christophe Mas
    • 4
  • Colette Rossier
    • 1
  • Pierre Hutter
    • 2
  • Paolo Meda
    • 4
  • Robert Lyle
    • 1
  • Alexandre Reymond
    • 1
  • Stylianos E. Antonarakis
    • 1
  1. 1.Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva 4, SwitzerlandSwitzerland
  2. 2.Unit of Genetics, Institut Central des Hôpitaux Valaisans, Sion, SwitzerlandSwitzerland
  3. 3.Zoology Station, Department of Zoology and Animal Biology, University of Geneva, 1224 Chêne-Bougeries, SwitzerlandSwitzerland
  4. 4.Department of Morphology, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva 4, SwitzerlandSwitzerland

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