The genomic breakpoint and chimeric transcripts in the EWSR1-ETV4/E1AF gene fusion in Ewing sarcoma

Cytogenet Cell Genet. 1998;82(3-4):278-83. doi: 10.1159/000015119.

Abstract

Chromosome translocation creates a fusion between the EWSR1 gene and an ETS family gene. The fusion between these two genes is a characteristic feature of Ewing sarcoma. We previously identified a fourth translocation, t(17;22)(q12;q12), in genomic DNA isolated from cells of patients affected with Ewing sarcoma. The discovery of this translocation suggested that there might be a novel EWSR1-ETV4 fusion gene. In the present study, we determined the genomic breakpoint and characterized the chimeric transcript of the EWSR1-ETV4 fusion gene in two t(17;22) Ewing sarcomas. Reverse transcriptase-PCR assay showed an in-frame fusion between the 5'-terminal region of EWSR1 and the 3' end of ETV4 (alias E1AF, PEA3); the chimeric transcript could thus serve as a template for expression of a protein composed of the N-terminal portion of EWSR1 fused to the DNA-binding domain of ETV4. Long PCR and sequence analysis of genomic DNA revealed that either exon 8 or intron 7 of EWSR1 is fused to the same intron of ETV4 in both tumors. Several palindromic oligomer sequences were found close to the breakpoints in both genes. The 159-bp Alu-like sequence was repeated in the breakpoint region of the ETV4 gene. These observations suggest a mechanism of EWSR1-ETV4 gene fusion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alu Elements
  • Artificial Gene Fusion
  • Base Sequence
  • Chimera
  • DNA Primers
  • DNA, Neoplasm / analysis
  • Gene Expression Regulation, Neoplastic
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Humans
  • Molecular Sequence Data
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics*
  • Ribonucleoproteins / genetics*
  • Sarcoma, Ewing / genetics*
  • Sequence Analysis, DNA
  • Transcription Factors / genetics*
  • Transcription, Genetic
  • Translocation, Genetic*

Substances

  • DNA Primers
  • DNA, Neoplasm
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Ribonucleoproteins
  • Transcription Factors
  • transcription factor PEA3

Associated data

  • GENBANK/AB005537
  • GENBANK/AB005538