Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

@article{Delattre1992GeneFW,
  title={Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours},
  author={Olivier Delattre and Jessica Zucman and Beatrice F. M. Plougastel and Chantal Desmaze and Thomas Melot and Martine Peter and Heinrich Kovar and Isabelle Joubert and Pieter J. de Jong and Guy A. Rouleau and Alain Aurias and Gilles D. Thomas},
  journal={Nature},
  year={1992},
  volume={359},
  pages={162-165}
}
EWING'S sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent and specific t(ll;22) (q24;q12) chromosome translocation1–8, the breakpoints of which have recently been cloned9. Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid… Expand
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts
TLDR
The deduced chimaeric protein encoded by the der(22) chromosome consists of the N–terminal domain of EWS linked to the bZIP domain of ATF–1, a transcription factor which may normally be regulated by cAMP. Expand
Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation.
The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. TheExpand
Human FLI-1 localizes to chromosome 11Q24 and has an aberrant transcript in neuroepithelioma.
TLDR
The amino acid sequence of the longest open reading frame showed that this gene was homologous to the mouse FLI-I gene, an ETS family gene activated by Friend erythroleukemia virus insertion, indicating that it may be rearranged in neuroepithelioma. Expand
Suppression of the Ewing’s sarcoma phenotype by FLI1/ERF repressor hybrids
TLDR
It is demonstrated that the ES transformed phenotype can be suppressed by chimeric transcriptional repressors containing the DNA-binding domain of FLI1 and the regulatory and repressor domain of ERF, a transcription suppressor and member of the ets gene family. Expand
EWS/Fli-1 chimeric protein is a transcriptional activator.
TLDR
Deletion analysis reveals that the EWS domain functions as a modulatory/regulatory domain for the transcriptional activation properties of the carboxy terminal transcriptionalactivation domain of EWS/Fli-1. Expand
An EWS/ERG fusion with a truncated N‐terminal domain of EWS in a Ewing's tumor
TLDR
To avoid false negative results, RT‐PCR‐based diagnosis of tumors with EWS fusion transcripts should now include the search for such rare variants, and it is suggested that the amino‐terminal portion of the NTD‐EWS, but not its carboxy terminal part, might be fundamental for the oncogenicity of the chimeric proteins. Expand
Genomic organization of the human e1af gene,a member of Ets transcription factors.
TLDR
It is shown that the human e1af gene, which is located in the q21 region of chromosome 17, is organized in 13 exons distributed along 19kb of genomic DNA, which could possibly accelerate an understanding of the molecular basis of putative inherited diseases linked to E1AF. Expand
Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma
TLDR
The presence of an abnormal CHOP transcript and protein in these tumours is reported and Targeting of a conserved effector domain of RNA-binding proteins to DNA may play a role in tumour formation. Expand
DNA-binding and transcriptional activation properties of the EWS-FLI-1 fusion protein resulting from the t(11;22) translocation in Ewing sarcoma
The 5' half of the EWS gene has recently been described to be fused to the 3' regions of genes encoding the DNA-binding domain of several transcriptional regulators, including ATF1, FLI-1, and ERG,Expand
Molecular genetics of chromosome translocations involving EWS and related family members.
TLDR
The functional consequence of fusing EWS (or a related family member) to a different DNA-binding domain can only be understood in the context of functional studies that define the specificity of action of the different fusion products. Expand
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