Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias

Genes Chromosomes Cancer. 1990 Sep;2(3):239-47. doi: 10.1002/gcc.2870020313.

Abstract

The t(1;19) chromosomal translocation in acute lymphoblastic pre-B cell leukemias involves the gene E2A for helix-loop-helix (HLH) proteins E12 and E47, ubiquitous transcriptional proteins implicated in the regulation of various lymphoid and nonlymphoid genes. To characterize the molecular features of the t(1;19)(q23;p13) translocation, we molecularly cloned breakpoint DNA from t(1;19)-carrying pre-B cell leukemias. In all cases, breakpoints on chromosome 19 occurred within 2 kb of each other in a single intron of the E2A gene. This clustered arrangement resulted in specific truncation of the E2A gene and transcript, with loss of sequences encoding the basic DNA-binding and HLH dimerization motifs from the derivative 19 chromosome. In contrast, breakpoints on chromosome 1 were distributed over a large region and could not be linked to exonic sequences of the PBX1 gene, although identical chromosome 1 sequences are joined to E2A sequences in 1;19 fusion transcripts. These data show that the 1;19 translocation consistently results in exchange of 3' exons encoding the HLH motifs of E2A with DNA from chromosome 1 to form a fusion gene on the derivative 19 chromosome.

Publication types

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

MeSH terms

  • Blotting, Southern
  • Burkitt Lymphoma / genetics*
  • Cell Line
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 19*
  • Cloning, Molecular
  • DNA, Neoplasm / genetics
  • DNA-Binding Proteins / genetics
  • Humans
  • TCF Transcription Factors
  • Transcription Factor 7-Like 1 Protein
  • Transcription Factors / genetics
  • Translocation, Genetic*

Substances

  • DNA, Neoplasm
  • DNA-Binding Proteins
  • TCF Transcription Factors
  • TCF7L1 protein, human
  • Transcription Factor 7-Like 1 Protein
  • Transcription Factors