The t(12;21) translocation converts AML-1B from an activator to a repressor of transcription

Mol Cell Biol. 1996 Apr;16(4):1349-55. doi: 10.1128/MCB.16.4.1349.

Abstract

The t(12;21) translocation is present in up to 30% of childhood B-cell acute lymphoblastic and fuses a potential dimerization motif from the ets-related factor TEL to the N terminus of AML1. The t(12;21) translocation encodes a 93-kDa fusion protein that localizes to a high-salt- and detergent-resistant nuclear compartment. This protein binds the enhancer core motif, TGTGGT, and interacts with the AML-1-binding protein, core-binding factor beta. Although TEL/AML-1B retains the C-terminal domain of AML-1B that is required for transactivation of the T-cell receptor beta enhancer, it fails to activate transcription but rather inhibits the basal activity of this enhancer. TEL/AML-1B efficiently interferes with AML-1B dependent transactivation of the T-cell receptor beta enhancer, and coexpression of wild-type TEL does not reverse this inhibition. The N-terminal TEL helix-loop-helix domain is essential for TEL/AML-1B-mediated repression. Thus, the t(12;21) fusion protein dominantly interferes with AML-1B-dependent transcription, suggesting that the inhibition of expression of AML-1 genes is critical for B-cell leukemogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 21*
  • DNA-Binding Proteins / genetics*
  • ETS Translocation Variant 6 Protein
  • Enhancer Elements, Genetic / genetics
  • Helix-Loop-Helix Motifs
  • Humans
  • Leukemia / genetics*
  • Molecular Sequence Data
  • Proto-Oncogene Proteins c-ets
  • Recombinant Fusion Proteins / genetics
  • Repressor Proteins*
  • Sequence Deletion
  • Transcription Factors / genetics*
  • Transcription, Genetic*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins c-ets
  • Recombinant Fusion Proteins
  • Repressor Proteins
  • Transcription Factors