Site-specific deletions involving the tal-1 and sil genes are restricted to cells of the T cell receptor alpha/beta lineage: T cell receptor delta gene deletion mechanism affects multiple genes

J Exp Med. 1993 Apr 1;177(4):965-77. doi: 10.1084/jem.177.4.965.

Abstract

Site-specific deletions in the tal-1 gene are reported to occur in 12-26% of T cell acute lymphoblastic leukemias (T-ALL). So far two main types of tal-1 deletions have been described. Upon analysis of 134 T-ALL we have found two new types of tal-1 deletions. These four types of deletions juxtapose the 5' part of the tal-1 gene to the sil gene promoter, thereby deleting all coding sil exons but leaving the coding tal-1 exons undamaged. The recombination signal sequences (RSS) and fusion regions of the tal-1 deletion breakpoints strongly resemble the RSS and junctional regions of immunoglobulin/T cell receptor (TCR) gene rearrangements, which implies that they are probably caused by the same V(D)J recombinase complex. Analysis of the 134 T-ALL suggested that the occurrence of tal-1 deletions is associated with the CD3 phenotype, because no tal-1 deletions were found in 25 TCR-gamma/delta + T-ALL, whereas 8 of the 69 CD3- T-ALL and 11 of the 40 TCR-alpha/beta + T-ALL contained such a deletion. Careful examination of all TCR genes revealed that tal-1 deletions exclusively occurred in CD3- or CD3+ T-ALL of the alpha/beta lineage with a frequency of 18% in T-ALL with one deleted TCR-delta allele, and a frequency of 34% in T-ALL with TCR-delta gene deletions on both alleles. Therefore, we conclude that alpha/beta lineage commitment of the T-ALL and especially the extent of TCR-delta gene deletions determines the chance of a tal-1 deletion. This suggests that tal-1 deletions are mediated via the same deletion mechanism as TCR-delta gene deletions.

MeSH terms

  • Base Sequence
  • Basic Helix-Loop-Helix Transcription Factors
  • Blotting, Southern
  • CD3 Complex / genetics
  • DNA, Neoplasm
  • DNA-Binding Proteins / genetics*
  • Gene Deletion*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion*
  • Phenotype
  • Polymerase Chain Reaction
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proteins / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Receptors, Antigen, T-Cell / genetics*
  • Recombination, Genetic
  • Restriction Mapping
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Transcription Factors*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • CD3 Complex
  • DNA, Neoplasm
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins, Fusion
  • Proteins
  • Proto-Oncogene Proteins
  • Receptors, Antigen, T-Cell
  • STIL protein, human
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Transcription Factors
  • TAL1 protein, human