title: The TPTE gene family: cellular expression, subcellular localization and alternative splicing.
abstract: The human TPTE (Transmembrane Phosphatase with TEnsin homology) gene family encodes a PTEN-related tyrosine phosphatase with four potential transmembrane domains. Chromosomal mapping revealed multiple copies of the TPTE gene on chromosomes 13, 15, 21, 22 and Y. Human chromosomes 13 and 21 copies encode two functional proteins, TPIP (TPTE and PTEN homologous Inositol lipid Phosphatase) and TPTE, respectively, whereas only one copy of the gene exists in the mouse genome. In the present study, we show that TPTE and TPIP proteins are expressed in secondary spermatocytes and/or prespermatids. In addition, we report the existence of several novel alternatively spliced isoforms of these two proteins with variable number of transmembrane domains. The latter has no influence on the subcellular localization of these different peptides as shown by co-immunofluorescence experiments. Finally, we identify another expressed TPTE copy, mapping to human chromosome 22, whose transcription appears to be under the control of the LTR of human endogenous retrovirus RTVL-H3.
authors.affiliation: Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1, Rue Michel Servet CH-1211, Geneva, Switzerland.
authors.forename: Caroline
authors.initials: C
authors.lastname: Tapparel
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.forename: Christophe
authors.initials: C
authors.lastname: Girardet
authors.forename: Louis
authors.initials: L
authors.lastname: Guillou
authors.forename: Robert
authors.initials: R
authors.lastname: Lyle
authors.forename: Christine
authors.initials: C
authors.lastname: Lamon
authors.forename: Pierre
authors.initials: P
authors.lastname: Hutter
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002460:Cell Line; D002522:Chlorocebus aethiops; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D049452:Green Fluorescent Proteins; D006367:HeLa Cells; D006801:Humans; D007150:Immunohistochemistry; D008164:Luminescent Proteins / Q000235:genetics / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics / Q000378:metabolism; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000378:metabolism; D011544:Pseudogenes / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D013087:Spermatids / Q000201:enzymology; D013090:Spermatocytes / Q000201:enzymology; D013736:Testicular Neoplasms / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D013737:Testis / Q000201:enzymology
chemical_list: D018076:DNA, Complementary; D008164:Luminescent Proteins; D008565:Membrane Proteins; D020033:Protein Isoforms; D011993:Recombinant Fusion Proteins; D049452:Green Fluorescent Proteins; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases; C446603:TPTE protein, human; C061816:phosphatidylinositol-3-phosphatase; D051059:PTEN Phosphohydrolase