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Gene Review

PTENP1  -  phosphatase and tensin homolog pseudogene...

Homo sapiens

Synonyms: PTEN-rs, PTEN2, PTENpg1, PTH2, psiPTEN
 
 
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Disease relevance of PTENP1

 

High impact information on PTENP1

  • The genomic sequence of PTEN is 98% identical to a highly conserved processed PTEN pseudogene (psiPTEN) and this sequence identity extends 841 base pairs into the promoter region [6].
  • Together, these data suggest that PTEN 2 is a Golgi-localized, testis-specific phospholipid phosphatase, which may contribute to the terminal stages of spermatocyte differentiation [7].
  • Enzymatic analysis of PTEN 2 revealed substrate specificity that is similar to PTEN, with a preference for the dephosphorylation of the phosphatidylinositol 3,5-phosphate phospholipid, a known mediator of vesicular trafficking [7].
  • Transcript analysis demonstrated that PTEN 2 is expressed only in testis and specifically in secondary spermatocytes [7].
  • This homologue, termed PTEN 2, contained an extended amino-terminal domain having four potential transmembrane motifs, a lipid phosphatase domain, and a potential lipid-binding C2 domain [7].
 

Biological context of PTENP1

 

Anatomical context of PTENP1

  • PTH2 was expressed in two normal lung tissues and two normal colon tissues, but in only four of 16 SCLC cell lines [1].
  • Detection of PTEN nonsense mutation and psiPTEN expression in central nervous system high-grade astrocytic tumors by a yeast-based stop codon assay [11].
 

Associations of PTENP1 with chemical compounds

  • Molecular modeling suggested that PTEN 2 is a phospholipid phosphatase with potential specificity for the phosphate at the 3 position of inositol phosphates [7].
 

Other interactions of PTENP1

  • TPTE and TPIP do not appear to be functional orthologues of the Golgi-localized and more distantly related murine PTEN2 [12].
 

Analytical, diagnostic and therapeutic context of PTENP1

  • As psiPTEN is transcribed, there is a potential for misinterpretation of PTEN/MMAC1 mutations when RT-PCR techniques are used, as well as potential for a psiPTEN-encoded translation product [8].
  • The study, a methylation-specific PCR assay, was carried out with methylated specific primers designed in a region with scarce homology with the psiPTEN pseudogene [13].
  • By sequence analysis of cDNA clones, we confirmed that all the mutations including these 4 rare ones were in the MMAC1 gene, not in the PTH2 pseudogene [14].

References

  1. Alterations of PTEN/MMAC1, a candidate tumor suppressor gene, and its homologue, PTH2, in small cell lung cancer cell lines. Kim, S.K., Su, L.K., Oh, Y., Kemp, B.L., Hong, W.K., Mao, L. Oncogene (1998) [Pubmed]
  2. PTEN methylation and expression in glioblastomas. Baeza, N., Weller, M., Yonekawa, Y., Kleihues, P., Ohgaki, H. Acta Neuropathol. (2003) [Pubmed]
  3. Identification of PTEN-related sequences in glioma cells and in non-neoplastic cell lines. Chiariello, E., Roz, L., Albarosa, R., Magnani, I., Finocchiaro, G. Cancer Lett. (1999) [Pubmed]
  4. Expression of PTEN and PTEN pseudogene in endometrial carcinoma. Yokoyama, Y., Wan, X., Shinohara, A., Takahashi, S., Takahashi, Y., Niwa, K., Tamaya, T. Int. J. Mol. Med. (2000) [Pubmed]
  5. Akt and PTEN: new diagnostic markers of non-small cell lung cancer? David, O. J. Cell. Mol. Med. (2001) [Pubmed]
  6. Considerations when analyzing the methylation status of PTEN tumor suppressor gene. Zysman, M.A., Chapman, W.B., Bapat, B. Am. J. Pathol. (2002) [Pubmed]
  7. PTEN 2, a Golgi-associated testis-specific homologue of the PTEN tumor suppressor lipid phosphatase. Wu, Y., Dowbenko, D., Pisabarro, M.T., Dillard-Telm, L., Koeppen, H., Lasky, L.A. J. Biol. Chem. (2001) [Pubmed]
  8. Transcriptional analysis of the PTEN/MMAC1 pseudogene, psiPTEN. Fujii, G.H., Morimoto, A.M., Berson, A.E., Bolen, J.B. Oncogene (1999) [Pubmed]
  9. A highly conserved processed PTEN pseudogene is located on chromosome band 9p21. Dahia, P.L., FitzGerald, M.G., Zhang, X., Marsh, D.J., Zheng, Z., Pietsch, T., von Deimling, A., Haluska, F.G., Haber, D.A., Eng, C. Oncogene (1998) [Pubmed]
  10. PTH2 receptor-mediated inhibitory effect of parathyroid hormone and TIP39 on cell proliferation. Misiano, P., Scott, B.B., Scheideler, M.A., Garnier, M. Eur. J. Pharmacol. (2003) [Pubmed]
  11. Detection of PTEN nonsense mutation and psiPTEN expression in central nervous system high-grade astrocytic tumors by a yeast-based stop codon assay. Zhang, C.L., Tada, M., Kobayashi, H., Nozaki, M., Moriuchi, T., Abe, H. Oncogene (2000) [Pubmed]
  12. TPIP: a novel phosphoinositide 3-phosphatase. Walker, S.M., Downes, C.P., Leslie, N.R. Biochem. J. (2001) [Pubmed]
  13. Promoter methylation of the PTEN gene is a common molecular change in breast cancer. García, J.M., Silva, J., Peña, C., Garcia, V., Rodríguez, R., Cruz, M.A., Cantos, B., Provencio, M., España, P., Bonilla, F. Genes Chromosomes Cancer (2004) [Pubmed]
  14. Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin. Zhang, S.J., Endo, S., Ichikawa, T., Yoshimura, J., Onda, K., Tanaka, R., Washiyama, K., Kumanishi, T. Jpn. J. Cancer Res. (1999) [Pubmed]
 
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