Alternative end-joining in follicular lymphomas' t(14;18) translocation

Leukemia. 2002 Jan;16(1):120-6. doi: 10.1038/sj.leu.2402324.

Abstract

T(14;18) chromosomal translocation is assumed to result from illegitimate rearrangement between the BCL2 proto-oncogene and the IGH locus during the D(H) to J(H) joining phase of V(D)J recombination in early B cells. Analysis of the breakpoint junctions suggests that translocation derives from the fusion between normal V(D)J recombination intermediates at the IGH locus and non-V(D)J-mediated broken-ends at the BCL2 locus. So far, BCL2 broken-ends have only been observed fused to coding-ends, raising questions concerning the molecular constraints of the illegitimate joining process. Using a combination of genome walking and long-range PCR assays, we describe in this report that in 4.5% (2/44) of the t(14;18), one of the BCL2 broken-ends is fused to a signal-end. The formation of these J(H)RSS/BCL2 junctions provides direct evidence that BCL2 broken-ends are capable of joining to both products of V(D)J recombination, suggesting their presence in the RAG-mediated post-cleavage complex. In addition, junctions generated by this alternative end-joining do not involve deletion of the chromosome 14 intervening sequences generally lost in the standard translocation, providing a unique opportunity to investigate the rearrangement status of this region in the translocated IGH allele. In both cases, a DJ(H) rearrangement could be detected 5' of the J(H)-RSS/BCL2 junction. These findings, together with the previously reported bias towards the most external D(H) and J(H) segments in standard breakpoints, strongly suggest that t(14;18) preferentially occurs during an attempted secondary D(H) to J(H) rearrangement. This unusual and restricted window of differentiation opens intriguing questions concerning the etiology of the translocation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Breakage*
  • Chromosome Walking
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 14 / ultrastructure*
  • Chromosomes, Human, Pair 18 / genetics
  • Chromosomes, Human, Pair 18 / ultrastructure*
  • DNA Nucleotidyltransferases / metabolism
  • Gene Rearrangement, B-Lymphocyte, Heavy Chain
  • Genes, Immunoglobulin*
  • Genes, bcl-2*
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Joining Region / genetics
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Proto-Oncogene Mas
  • Translocation, Genetic / genetics*
  • VDJ Recombinases

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin Joining Region
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • DNA Nucleotidyltransferases
  • VDJ Recombinases