The TPTE gene family:: cellular expression, subcellular localization and alternative splicing

被引:65
|
作者
Tapparel, C
Reymond, A
Girardet, C
Guillou, L
Lyle, R
Lamon, C
Hutter, P
Antonarakis, SE
机构
[1] Univ Geneva, Sch Med, Ctr Med, Div Med Genet, CH-1211 Geneva, Switzerland
[2] Inst Cent Hop Valaisans, Div Pathol, Sion, Switzerland
[3] CHU Vaudois, Unit Pathol, Lausanne, Switzerland
[4] Inst Cent Hop Valaisans, Unit Genet, Sion, Switzerland
关键词
TPTE; dual phophatase; transmembrane domains; Hsa21; splice variants; expression in spermatocytes II/prespermatids; human endogenous retrovirus;
D O I
10.1016/j.gene.2003.09.038
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 (T-PTE 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. (C) 2003 Elsevier B.V. All rights reserved.
引用
收藏
页码:189 / 199
页数:11
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