Cloning and characterization of the novel chimeric gene TEL/PTPRR in acute myelogenous leukemia with inv(12)(p13q13)

Cancer Res. 2005 Aug 1;65(15):6612-21. doi: 10.1158/0008-5472.CAN-04-4631.

Abstract

We have cloned a novel TEL/protein tyrosine phosphatase receptor-type R (PTPRR) chimeric gene generated by inv(12)(p13q13). PTPRR is the first protein tyrosine phosphatase identified as a fusion partner of TEL. The chimeric gene fused exon 4 of the TEL gene with exon 7 of the PTPRR gene, and produced 10 isoforms through alternative splicing. Two isoforms that were expressed at the highest level in the leukemic cells could have been translated into COOH-terminally truncated TEL protein possessing the helix-loop-helix domain (tTEL) and TEL/PTPRR chimeric protein linking the helix-loop-helix domain of TEL to the catalytic domain of PTPRR. These two mutant proteins exerted a dominant-negative effect over transcriptional repression mediated by wild-type TEL, although they themselves did not show any transcriptional activity. Heterodimerization with wild-type TEL might be an underlying mechanism in this effect. TEL/PTPRR did not exhibit any tyrosine phosphatase activity. Importantly, overexpression of TEL/PTPRR in granulocyte macrophage colony-stimulating factor-dependent UT7/GM cells resulted in their factor-independent proliferation, whereas overexpression of tTEL did not. After cytokine depletion, phosphorylated signal transducers and activators of transcription 3 (STAT3) significantly declined in mock cells, but remained in both tTEL- and TEL/PTPRR-overexpressing cells. Loss of tumor suppressive function of wild-type TEL and maintenance of STAT3-mediated signal could at least partly contribute to the leukemogenesis caused by inv(12)(p13q13).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • COS Cells
  • Chlorocebus aethiops
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 12 / genetics
  • Cloning, Molecular
  • Consensus Sequence
  • DNA, Complementary / genetics
  • DNA-Binding Proteins / genetics*
  • ETS Translocation Variant 6 Protein
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Leukemia, Myeloid, Acute / genetics*
  • Mice
  • Molecular Sequence Data
  • NIH 3T3 Cells
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Protein Tyrosine Phosphatases / genetics*
  • Proto-Oncogene Proteins c-ets
  • Receptor-Like Protein Tyrosine Phosphatases, Class 7
  • Recombinant Fusion Proteins / genetics
  • Repressor Proteins / genetics*

Substances

  • DNA, Complementary
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-ets
  • Recombinant Fusion Proteins
  • Repressor Proteins
  • PTPRR protein, human
  • Protein Tyrosine Phosphatases
  • Ptprr protein, mouse
  • Receptor-Like Protein Tyrosine Phosphatases, Class 7