The t(8;21) fusion protein interferes with AML-1B-dependent transcriptional activation

Mol Cell Biol. 1995 Apr;15(4):1974-82. doi: 10.1128/MCB.15.4.1974.

Abstract

The AML-1/CBF beta transcription factor complex is targeted by both the t(8;21) and the inv(16) chromosomal alterations, which are frequently observed in acute myelogenous leukemia. AML-1 is a site-specific DNA-binding protein that recognizes the enhancer core motif TGTGGT. The t(8;21) translocation fuses the first 177 amino acids of AML-1 to MTG8 (also known as ETO), generating a chimeric protein that retains the DNA-binding domain of AML-1. Analysis of endogenous AML-1 DNA-binding complexes suggested the presence of at least two AML-1 isoforms. Accordingly, we screened a human B-cell cDNA library and isolated a larger, potentially alternatively spliced, form of AML1, termed AML1B. AML-1B is a protein of 53 kDa that binds to a consensus AML-1-binding site and complexes with CBF beta. Subcellular fractionation experiments demonstrated that both AML-1 and AML-1/ETO are efficiently extracted from the nucleus under ionic conditions but that AML-1B is localized to a salt-resistant nuclear compartment. Analysis of the transcriptional activities of AML-1, AML-1B, and AML-1/ETO demonstrated that only AML-1B activates transcription from the T-cell receptor beta enhancer. Mixing experiments indicated that AML-1/ETO can efficiently block AML-1B-dependent transcriptional activation, suggesting that the t(8;21) translocation creates a dominant interfering protein.

Publication types

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

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Cell Compartmentation
  • Cell Nucleus / chemistry
  • Cloning, Molecular
  • Consensus Sequence
  • Core Binding Factor Alpha 2 Subunit
  • Core Binding Factors
  • DNA, Complementary / genetics
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Enhancer Elements, Genetic / genetics
  • Gene Expression Regulation
  • Leukemia, Myeloid, Acute / genetics
  • Molecular Sequence Data
  • Neoplasm Proteins / biosynthesis*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / isolation & purification
  • Neoplasm Proteins / metabolism
  • Protein Binding
  • Proto-Oncogene Proteins*
  • RUNX1 Translocation Partner 1 Protein
  • Recombinant Fusion Proteins / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcription, Genetic*
  • Transcriptional Activation*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • Core Binding Factors
  • DNA, Complementary
  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • RUNX1 Translocation Partner 1 Protein
  • RUNX1T1 protein, human
  • Recombinant Fusion Proteins
  • Transcription Factors

Associated data

  • GENBANK/U19601